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Disease Exam 1: Genetic Development
genetic development
174
Anatomy
Graduate
01/28/2011
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Term
Mutations that only involve a single base pair are called ___ ___.
 Definition
point mutations
Term
Mutations that involve rearrangments in big regions of the chromosome are called ____ ____.
 Definition
chromosomal mutations
Term
3 types of point mutations:
 Definition
- silent mutation
- missense mutation
- nonsense mutation
Term
In both sickle cell trait and sickle cell disease, a __ ___ mutation occurs when ___ replaces ____, causing ___ to replace ___ ___ in the 6th position of the ___ ___ chain. As a result, RBCs spontaneously sickle in the peripheral blood if the amount of sickle hemoglobin is greater than ___.
 Definition
- point missense
- adenine replaces thymidine
- valine to replace glutamic acid
- beta-globulin
- 60%
Term
what is the normal nucleotide base and amino acid coded for and what is it replaced with in sickle cell disease?
 Definition
- normal: thymidine> glutamic acid
- sickle cell: adenine> valine
Term
A missense mutation occurs when a single ___ ___ within a gene changes causing the DNA to code for a ___ ____ ___, which changes the ___ effect.
 Definition
- nucleotide base
- different amino acid
- phenotypic effect changes
Term
Sickle cell is a ___ ___mutation, this means that there is a change in ___ ____ that causes a change in ___ ___and one __ ___ in the protein sequence. Even though the change might be small, it results in a __ __whose characters are different from the normal one.
 Definition
- point missense
- one nucleotide
- one codon
- amino acid
- mutant protein
Term
With sickle cell anemia, the normal triplet on the DNA strand is ____, but it gets mutated to ___. Thus the normal codon is ____ which codes for ___ ___, but the mutated ___ codon codes for ___.
 Definition
- CTT
- CAT
- GAA
- glutamic acid
- GUA
- valine
Term
Normal: CTT:GAA, glutamic acid
Sickle cell anemia: CAT:GUA, valine
 Definition
Term
Normal hemoglobin starts has glutamic acid
Sickle hemoglobin has valine for glutamic acid
 Definition
Term
People heterozygous for sickle cell anemia have an advantage in Africa because they are resistant to malaria, which is one of the main causes of death there. Therefore, the frequency of this sickle cell allele is higher in Africa and this change of frequency of alleles contributes to evolution.
Natural selection has led to particular frequencies of the sickle-cell and the normal hemoglobin alleles, to balance the twin risks of anemia and malaria
 Definition
Term
define thalassemia:
 Definition
- blood disease common in the mediterranean
- there is an alpha and beta form
- stop codon is coded for prematurely, so there is premature termination of DNA transcription of the alpha or beta chain
Term
A nonsense mutation codes for a __ ___ that causes ___ ___ of protein synthesis.
 Definition
- stop codon
- premature termination
Term
In beta-thalassemia major, a ___ ___ produces a ___ ___ that causes ___ ___ of DNA ____ of the ___ ____ chain. Consequently, there is no ____ __ resulting in ___ ____.
 Definition
- nonsense mutation
- stop codon
- premature termination
- transcription
- beta-globulin chain
- hemoglobin synthesis
- microcytic anemia
Term
A silent mutation is a change in the ____ but the ____ amino acid is encoded for.
 Definition
- nucleotide
- same amino acid
Term
Frame shift mutations result from either ___ or ____ of one or two nucleotide bases.
 Definition
- addition or deletion
Term
addition or deletion of nucleotides causes _____ mutations.
 Definition
frameshift
Term
With a frameshift mutation, the _____ ____ is changed so that all codons after the mutation are ____ even though the bases themselves may be present.
 Definition
- reading frame
- incorrect
Term
Tay-Sachs diseases is due to an ____ of bases into a coding sequence of a gene may occur. Sometimes a whole gene sequence may be duplicated.
 Definition
insertion
Term
Insertion of number of nucleotides that are not multiples of three, will result in a ____ mutation. This occurs with Tay Sach's disease, in which __ __ ___ are inserted in exon __ of the _____ gene, results in a ___ ___ mutation ___ to the insertion.
 Definition
- frame shift
- 4 base pairs
- exon 11
- hexoseaminidase gene
- frame shift
- distal
Term
Tay Sach's disease, a __ ___ insertion results in an altered DNA code leading to formation of a ___ ____ leading to decreased synthesis of the protein ______.
 Definition
- 4 base
- stop codon
- hexosaminidase
Term
Tay Sach's is a fatal genetic ___ storage disease in which harmful quantities of a ___ substance called ____ __ buids up in ___ and ___ ___ in the ___.
 Definition
- lipid
- fatty
- ganglioside Gm2
- tissue
- nerve cells
- brain
Term
Tay Sach's disease, a __ ___ insertion results in an altered DNA code leading to formation of a ___ ____ leading to decreased synthesis of the protein ______.
 Definition
- 4 base
- stop codon
- hexosaminidase
Term
Tay Sach's is a fatal genetic ___ storage disease in which harmful quantities of a ___ substance called ____ __ buids up in ___ and ___ ___ in the ___.
 Definition
- lipid
- fatty
- ganglioside Gm2
- tissue
- nerve cells
- brain
Term
Tay Sach's is caused by deficiency of the enzyme called ___ ____ _.
 Definition
beta-hexosaminadase A
Term
Infants with Tay Sach's appear to develop normally within first few months of life. But as nerve cells become distended with fatty material, a relentless deterioration of mental and physical abilities occurs.
 Definition
Term
define anticipation:
 Definition
- as additional trinucleotide repeats, increase disease severity in future generations
Term
Name 2 diseases where anticipation occurs:
 Definition
- Huntington's Disease
- Fragile X
Term
define trinucleotide repeat expansions:
 Definition
Trinucleotides are triplets of nucleotides that are repeated in tandem many times over. The number of repeats varies in different individuals. An example of trinucleotide repeats is - - - CAG CAG CAG CAG CAG - - - -, and is designated as (CAG)n where n is the number of repeats in the particular individual. The number of repeats is usually stable and the same number of repeats is transmitted from generation to generation. Trinucleotide repeats are widespread in the genome. They are perfectly normal and occur in all individuals.
Term
the number of trinucleotide repeats an individual has is genetically determined.
 Definition
Term
Trinucleotide repeat expansion: A mutation arises when the repeats become unstable and undergo expansion, namely an increase in the number of repeats as they are transmitted from one generation to the next.
 Definition
Term
When the number of repeats exceeds a certain limit, clinical symptoms occur. An example is the Huntington's gene, which, when mutated, causes Huntington's disease.
 Definition
Term
With Huntington's Disease the normal range of (CAG)n is __ to ___. Symptoms of Huntington's occurs with individuals whose number of repeats is greater than __. The intermediate zone of __ to __ is a gray unclear zone.
 Definition
- 11-34
-37
- 35-37
Term
Is Huntington's a dominant or recessive disease?
 Definition
dominant
Term
Huntington's Disease results from a genetically programmed ____ of ___ in certain areas in the brain. An access of repeats causes the protein to form aggregates that are deposited within the neurons causing ___ ____.
 Definition
- degeneration of neurons
- neuronal degeneration
Term
With Hungtington's Disease, the neuronal degeneration causes:
 Definition
- uncontrolled movements
- loss of intellectual faculties
- emotional disturbances
Term
HD is a familial disease. Each child of an HD parent has a ___ chance of inheriting the disease. A person who inherits the gene, will sooner or later develop the disease.
 Definition
- 50:50
Term
With Fragile X, neurological development seems normal until ages ____ when they have learning difficulties. This disease is one of several ____ expansion diseases. When the copy number is ____ the ____ ___ ___ is ___ in neuronal expression.
 Definition
- 3-5
- CAG
- increased
- fragile x protein
- decreased
Term
2 classifications of Genetic Disorders:
 Definition
1. Mendelian Disorders
2. Chromosomal Disorders
Term
Mendelian disorders are determined by alteration or mutation in a ___ gene. A Mendelian trait is one controlled by a ___ ___ and shows a ___ ___ ____ pattern. In such cases, a ___in a ___ gene can cause a disease that is inherited according the Mendel's laws. Give three examples of this.
 Definition
- single gene
- single locus
- simple Mendelian inheritance pattern
- mutation
- single gene
- Sickle Cell Anemia
- Tay Sach's Disease
- Cystic Fibrosis
Term
Mendelian disorders can be tracked via a ___.
 Definition
pedigree
Term
Autosomal Recessive Trait: Both parents are carriers of the mutant gene, 'a' is the gene with the recessive mutation. Example: Cystic fibrosis
 Definition
Term
If both parents carry an altered gene, they have 1 in 4 (25%) risk of having a child affected with CF in each pregnancy they have together
 Definition
Term
isolated cases in a family of an autosomal dominant disease is caused by a ___ ___.
 Definition
new mutation
Term
Marfan syndrome is an autosomal ___ disease.
 Definition
dominant
Term
So if a dad has Marfan sydnrome, and the mom does not, what are the chances that each of their offspring will have Marfan Syndrome?
 Definition
- 50:50 chance b/c half of the time dad will donate the Marfan gene
Term
With x-linked recessive traits, an affected male has the ___ ___ gene on his x-chromosome and passes it on to ___ of his daughters. Then the ___ daughthers pass it on to ___ of their male offspring.
 Definition
- mutant recessive
- all
- asymptomatic
- 50%
Term
2 examples of x-linked recessive disorders:
 Definition
- hemophilia
- color blindness
Term
Bruton's agammaglobulinemia disease is a ___ __-___ disease linked to the ___ ____. With this condition the patient is not making ___ ____.
 Definition
- recessive sex-linked
- x chrmosome
- b lymphocytes
Term
Hemophilia A is an ___ ___ ___ ___ involving a deficiency of ____ __ in the ___ ___.
 Definition
- x-linked recessive disorder
- factor VIII
- clotting cascade
Term
With Hemophilia A, females are ___ and transmit the abnormal x chromosome to ___ of their male offspring.
 Definition
- asymptomatic
- 50%
Term
If there is a new case of hemophilia in a family, it is likely due to a new mutation. This accounts for ___ of the hemophilia cases.
 Definition
30%
Term
Female carriers carrying hemophilia A gene can be symptomatic if what occurs?
 Definition
- more inactivation of the maternal than paternal X chromosomes causing females to become "homozygous" for the abnormal x chromosome
Term
If a woman is a carrier of an x-linked recessive disorder, but her husband does not have it, their sons will have a __ chance of inheriting the disease, none of the females will have it, but females will have a ___ chance of being carrieres.
 Definition
50%
50%
Term
If a man has an X-linked recessive disorder and his mate does not carry the allele for it, all of their girls will be carriers. None of their boys will inherit the harmful allele.  Only girls receive X chromosomes from their fathers.
 Definition
Term
With X-linked dominant inheritance, if the father alone is the carrier of the defective gene, he will have the disorder, and ___ of his daughters and __ of his sons will have the disorder.
 Definition
- all of his daughters
- none of his sons
Term
With an x-linked dominant disease, if the mother alone is affected, all offspring will have a __ chance at inheriting the disease.
 Definition
50%
Term
look back at slides 49 and 50 of genetics lecture and make sure you can define all of these.
 Definition
Term
Non-disjunction is an error in ___ resulting in a ___ ____. It produces cells with unusual combinations of chromosomes. explain
 Definition
- meiosis
- chromosome mutation
- so one gamete will end up with 3 chromosomes b/c sister chromatids failed to separate, and the other gamete will end up no chromosomes
Term
Down Syndrome is also known as ___ __. With this condition, the individual has ___ copies of chromosome 21. During ___ sister chromatids did not separate, also known as ____, so that the gamete ended up with ___ chromosomes. So at fertilization, when the chromosomes form new homologous pairs, the 21st pair is actually a ___.
 Definition
- Trisomy 21
- 3
- meiosis
- non-disjunction
- triplet
Term
symptoms of Down's Sydnrome:
 Definition
- growth failure
- mental retardation
- flat back of head
- many loops on finger tips
- palm creases
- special skin ridge pattern
- unilateral or bilateral absense of one rib
- intestinal blockage
- umbilical hernia
- abnormal pelvis
- diminished muscle tone
- broad flat face
- slanted eyes
- epicanthic eyefold
- short nose
- short broad hands
- small and arched palate
- big wrinkled tongue
- dental problems
- congenital heart disease
- enlarged colon
- big toes widely spaced
Term
___ is the loss of one chromosome in cells. ___ ___ is an example of this.
 Definition
Monosomy
Turner Syndrome
Term
Turner syndrome is typically caused by ___.
 Definition
nondisjunction
Term
nondisjunction:
 Definition
when a pair of sex chromosomes fails to separate during formation of an egg/sperm
Term
With turner syndrome, an abnormal egg/sperm unites with a normal sperm/egg to form an embryo. That embryo may end up missing one of the sex chromosomes. So as the embryo grows, every cell is missing that chromosome. With turner syndrome the x chromosme is __ or ___.
 Definition
missing
incomplete
Term
People who have Turner Syndrome develop as ____. The genes affected are involved with growth and sexual development, so girls with this condition have ___ stature and abnormal sexual characteristics. This is not passed down b/c this condition makes one ___.
 Definition
- female
- short
- infertile
Term
Non-disjunction can also occur during mitosis, and the result is an individual that expresses ___ ____.
 Definition
chromosomal mosaicism
Term
chromosomal mosaics are associated with mild to severe phenotypic symptoms.
 Definition
Term
define chromosomal mosaicism:
 Definition
- when an individual has two or more cell populations with a different chromosomal makeup
Term
If nondisjunction occurs after conception, it is occuring during ____.
 Definition
mitosis
Term
The term "mosaicism" is used to describe the presence of more than one type of cell in a person. For example, a person may have some of the cells in their body with 46 chromosomes, while other cells in their body have 47 chromosomes. An example of mosaicism is mosaic Down syndrome. 1 to 2 percent of individuals with Down syndrome are mosaic, where there are at least two types of cells, some with the usual number of chromosomes (46 total), and others with an extra #21 chromosome (47 total).
At some point after fertilization, there may be an error in mitosis, where a cell does not split evenly into two. The result is that some cells have the normal number or 46 chromosomes, and other cells have an extra #21 or 47 chromosomes. (46,XX/47,XX,+21).
 Definition
Term
When a baby is born with Down syndrome, the physician will take a blood sample to perform a chromosome study. Typically, 20 different cells are analyzed. If five of the 20 are normal (46 chromosomes), while the other 15 have an extra #21 chromosome (47 chromosomes), the baby would be said to have mosaic Down syndrome. Since the percentage of cells with an extra chromosome is 15 out of 20, the baby would be said to have a level of mosaicism at 75 percent
 Definition
Term
chromosomal mutations involve rearrangements in ___ ___ of chromosomes.
 Definition
big regions
Term
chromosomal reciprocal translocations are usually an __ of material between __ ____ chromosomes.
 Definition
- exchange of material between non-homologous chromosomes
Term
In a balanced translocation, there is no net __ or ___ of chromosomal material. Two chromosomes have been ___ and ___ in the wrong combination.
 Definition
- no net gain or loss
- broken and rejoined
Term
Balanced reciprocal translocation is unlikely to have any severe consequence for the cell because, even if one of the breakpoints lies within a gene, most mutations are recessive
Definition
Term
Robertsonian translocations are a special case of ___ ___ ____. They involve any two out of __, __, ___, __, and __. All of the chromosomes are ___, meaning the ___ is very close to one end. The short arms contain few genes except for tandem repeats of ribosomal RNA genes. Every ___ cell thus contains __ copies of the block of repeated genes.
 Definition
- almost balanced translocation
- 13, 14, 15, 21, 22
- acrocentric
- centromere
- diploid
- 10
Term
A Robertsonian translocation is a fusion of between ___ of two of these chromosomes with loss of the __ __ forming a chromosome with two ___ ___, one derived from each chromosome. The loss of the short arms does not matter, each cell still has eight copies of the rRNA gene block and that, apparently, is enough
 Definition
- centromeres
- short arms
- long arms
Term
The extra chromosome 21 material that causes Down syndrome may be due to a ___ ____. The long arm of chromosome 21 is attached to another chromosome, often ___ __ or itself, called a _____.
 Definition
- Robertsonian translocation
- chromosome 14
- isochromosome
Term
define chromosomal deletion:
 Definition
part of the chromosome is missing
Term
Cri-du-chat is cat sounding cry in children with abnormal ___ development caused by ____ on the __ arm of chromosome ___. Multiple genes are missing from this chromosome and result in various symptoms, one of which is the cry, which usually disappears by age 2 making it hard to diagnose this condition.
 Definition
- larynx
- deletion
- short
- chromosome 5
Term
___ is a protein that is an important component of skeletal muscle. The gene for this protein is located on the ___ arm of the __ chromosome. Deletion of this gene results in ___ ____ ____. This is a severe ___ linked ___ disorder that affects _____ and is transmitted by ____ carriers.
 Definition
- Dystrophin
- long arm
- x chromosome
- Duchenne muscular dystrophy
- x linked
- recessive
- affects males
- female carriers
Term
In males with Duchenne muscular dystrophy, there is almost a complete lack of ____. Muscle weakness begins in childhood and increases progressively. Child will be wheel chair bound by age 15. Death usually occurs in early 20s due to respiratory involvement.
 Definition
dystrophin
Term
Duchenne muscular dystrophy Mutations of the dystrophin gene vary greatly in extent. (a) upper, normal dystrophin gene; (b) middle, large deletion causing Duchenne (c) lower, small deletion affecting non-critical region causing Becker muscular dystrophy
 Definition
Term
A lower small deletion in the dystrophin gene results in ___ ___ ___.
 Definition
Becker muscular dystrophy
Term
___ ____ ___ means there were smaller non-critical deletions in the dystrophin gene. With this condition muscle weakness begins in adolescence and is slowly progressive. Affected individuals can lead a normal life.
 Definition
Becker Muscular Dystrophy
Term
examples of genetic diseases caused by deletions:
 Definition
- cri-du-chat
- Duchenne Muscular Dystrophy- xlinked recessive disorder
- Cystic Fibrosis
Term
examples of genetic conditions caused by non-disjunction:
 Definition
- Down's Syndrome
- Turner Syndrome
Term
If non-disjunction occurs during mitosis chromosomal ____ occurs. This is when an individual has cell populations with a different chromosomal makeup.
 Definition
mosaicism
Term
The extra chromosome 21 material that causes Down syndrome may be due to a Robertsonian translocation. The long arm of chromosome 21 is attached to another chromosome, often chromosome 14 (45,XX,t(14;21q)) or itself (called an isochromosome, 45,XX,t(21q;21q)) as seen in the translocation karyotype figure.
Definition
Term
It is evident that, although Duchenne and Becker muscular dystrophy are both caused by a deletion in the same gene, a female carrier of Becker muscular dystrophy be reassured that she cannot have a son affect with the more severe Duchenne muscular dystrophy
 Definition
Term
A ___ of one codon results in cystic fibrosis.
 Definition
deletion
Term
Cystic fibrosis is caused by a mutation in the ___ ___ ____ ___ gene. This gene produces at transmembrane protein that regulates the flow of ___ ions into the cells. The most common mutation is a ____ of a single codon at position of this gene.
 Definition
- Cystic Fibrosis transmembrane regulator (CFTR)
- chloride
- deletion
Term
____ for a specific mutation have cystic fibrosis disease, which is characterized by secretion of very thick mucus causing obstruction of the bronchi and predisposing patient to __ ___, ___ ___ ___, ___ and ___ problems, and excess ___ loss in sweat.
 Definition
- Homozygotes
- pulmonary infections
- pancreatic duct obstruction
- intestinal and liver problems
- salt
Term
However, different deletions in the CFTR gene may affect the resulting clinical manifestations. Some deletions may cause mild forms of cystic fibrosis.
 Definition
Term
The most common chromosomal insertion is in ___ ___ gene which leads to ___ _, an __ ___ bleeding disorder.
 Definition
- factor VIII
- Hemophilia A
- x-linked
Term
disease caused by insertion:
 Definition
Hemophilia A
Term
With turner syndrome, ___ cell in the baby is missing an ___ chromosome. Thus, turner syndrome is not ___.
 Definition
every cell
missing an x chromosome
not mosaic
Term
A translocation where Part of 21 has been relocated to 14 in either the mother or the father
Would be a problem for the parents b/c as long as they had that info somewhere, it doesn’t matter
But when that extra long one goes to the baby, the body reads that is has three 21s.
 Definition
Term
With Duchenne muscular dystrophy, as the muscle atrophies it is first replaced with ___ and then ___ tissue.
 Definition
- fat
- fibrous
Term
Hemophilia is associated with big ____ where the patient bleeds into big spots in the body.
 Definition
hematoma
Term
Patau Syndrome is ___ ___ resulting in severe physical and mental problems. List some of the manifestations:
 Definition
trisomy 13
- cleft lip and/or palate
- small head
- absent eyebrows
- dysplastic or malformed ears
- clenched hands and polydactyly
- undescended or abnormal testes
Term
Edwarad's syndrome is ___ ___. Patient's with this condition can range from mildly to severely affected. List manifestations of this condition.
 Definition
- trisomy 18
- occiput is prominent
- dysplastic or malformed ears
- small mouth, jaw, and neck
- shield chest
- prominent sternum
- wide-set nipples
- flexed big toe
- prominent heels
Term
Down syndrome is a chromosomal disorder which causes physical and intellectual delays in development and occurs when there are 3 chromosome 21's, resulting in 47 total chromosomes instead of the normal 46. The most common clinical features are short neck and flat face, upward slanting eyes, low muscle tone and a single crease across the palm of the hand. Congenital heart defects accompany Down syndrome in about 40% of the cases. Vision and hearing problems are also common.
 Definition
Term
In about 4% of all cases of Down Syndrome, the extra copy of chromosome 21 is attached/____ to another chromosome. This is the ____ form of the condition.
 Definition
translocated
inherited
Term
In 1% of all Down Syndrome cases the mistake in chromosome distribution in cell division occurs after ___ aka during ____. Thus there is a mixture of cells with different chromosome patterns. This is called _____.
 Definition
- fertilization
- mitosis
- mosaicisim
Term
With mosaic Down Syndrome some of the body cells have ___ chromosomes, while some have ___. The number of cells with trisomy and in which tissues they are located will determine the severity.
 Definition
- 47
- 46
Term
95% of all Down Syndrome cases are due to ___ _____. This means that the extra copy of the chromosome 21 is present in ___ body cells. This is the condition referred to as ___ __. With these conditions the mistake in distrubution of chromosomes occured during ___ while producing the gametes.
 Definition
non-disjunction
all
trisomy 21
meiosis
Term
Female pseudohermaphroditism is aka as ___ __ ____. Females with this condition have the chromosomes of a ___, the ___ of a woman, but the external genitalia are ____.
 Definition
- 46 xx intersex
- chromosomes of a woman
- ovaries of a woman
- external genitalia are masculinized
Term
Cases of female pseudohermaphroditism can be ___ or ____. It is usually the result of a ___ fetus having been exposed to excess ___ hormones before birth. The labia fuse and the clitoris enlarges to appear like a penis. This disorder is rare, only 1/10,000 females have this condition.
 Definition
- ancestral or sporadic
- female
- male hormones
Term
Possible causes of female pseudohermaphroditism:
 Definition
- congenital adrenal hyperplasia
- male hormones taken or encountered by mother during pregnancy
- male hormone producing tumors in the mother (ovarian tumors)
Term
Male Pseudohermaphroditism is also known as __ ___ ____. Males who have this disorder have the chromosomes of a ___, but the ___ ____ are incompletely formed, ambiguous, or are clearly female. Individuals who have this disorder may develop ___ which remain internal. The testes if they do form may be normal or malformed. These patients have genital ducts and external genitalia that appear to be female. The extent of secondary sex characteristics varies from individual to individual. Some have developed a fully feminine appearance in their sex organs while others are only slightly developed.
 Definition
- 46 xy intersex
- chromosomes of a male
- external genitalia are unclear
- testis
Term
Possible causes of male pseudohermaphroditism:
 Definition
- problem with testes
- problem with testosterone formation
- problems with using testosterone
Term
A 46-year-old phenotypic female.
She was referred to a gynecologist because she was having hot flashes, unusual growth of hair in uncommon places, and sweating. The hair growth, also known as hirsutism, began at puberty, but had begun to get worse over the last several years.
The woman appeared to be normal until she hit puberty around her early teenage years. When puberty hit, she experienced growth of her breasts, enlargement of the clitoris, and male type hair growth, but menstruation never began. At this time it was discovered that the woman was lacking a uterus, and she had a blind ending vagina. She had had a clitoridectomy to reduce the size of her abnormally large clitoris. Bilateral oval masses were palpated in the upper lateral labia majora. These masses were tender to the touch, and could be moved toward the inguinal canal.
Testing showed that she had abnormally high testosterone levels compared to that of a normal female, but abnormally low testosterone levels compared to that of a normal male.
Her family history was non-revealing besides the fact that her parents were first cousins.

What type of pseudohermaphroditism is this patient?
 Definition
46 xy hermaphroditism aka male hermaphroditism with the chromosomes of a man but ambiguous external genitalia
Term
A patient showed secondary sex characteristics of a male and had the gonads of a male, but the external genitalia appeared mixed.
The patient had externally female sex characteristics like both the labia majora and labia minora, and a mons pubis, a large clitoris (almost like a small penis), but also had small masses that appeared to be testis. Behind the clitoris this patient had a blind pouch and a urethral opening. The patient had the qualities, quantities, and distribution of hair that patterned a male.
Testing of the amounts of certain levels of byproducts in urine showed largely male qualities.
When puberty hit, this patient did not develop breasts and menstruation never began.

what type of pseudohermaphroditism is this?
 Definition
46 xy intersex aka male pseudohermaphroditism
Term
Androgen Insensitivity Syndrome (AIS) is a genetic disorder that causes individuals who are genetically ____ as evidenced by __ chromosomes and ___ in the inguinal canal or abdominal cavity, to have a ___ phenotype as evidenced by their ___ external genitalia. However, they are lacking a ____ .
 Definition
- genetically male
- xy chromosomes
- testis
- female phenotype
- female external genitalia
- lack a uterus- infertile and do not menstruate
Term
AIS is a ___ trait caused by a mutation in the __ gene on the ___ chromosome, which codes for the ___ ___ ___. This protein normally functions as a cellular receptor for androgens like testosterone and DHT.
 Definition
- recessive
- AR gene on the x chromosome
- human Androgen Receptor
-
Term
AIS patients are genetically __ but phenotypically ambiguous or ___.
 Definition
genetically male
phenotypically female
Term
The treatment for AIS varies extremely with each case. The testes are usually removed after puberty as undescended testicles may develop cancer. Estrogen treatment after puberty and gender assignment is common, but it varies from case to case depending on the desires of the individual and the degree of the insensitivity.
 Definition
Term
True Hermaphroditism (TH) refers to individuals who have both unequivocal ___ tissue and ___ elements regardless of their ____.
 Definition
- ovarian
- testicular
- regardless of their karyotypes
Term
. He was first diagnosed at the age of 9 years when he presented hypospadias and a left undescended testis.
He was lost to follow-up until he presented at the age of 23 years with bilateral gynecomastia. A hormonal profile showed a low testosterone level, while a seminal assay showed very few sperms.
However he claimed to be sexually active. A year later, after he got married, he began to complain of impotence

What does this patient have?
 Definition
true hermaphroditism
Term
look at slide 95 of genetics lecture and makes sure you know all these terms
 Definition
Term
___ of ___ is a congenital heart disease characterized by the following 4 abnormalities that result in insufficiently oxygenated blood being pumped to the body.
 Definition
Tetralogy of Fallet
- narrowing of the pulmonary valve
- thickening of the right ventricle wall
- displacement of aorta over ventricular septal defect
- ventricular septal defect
Term
With anencephaly, the baby is missing area of the brainstem.
 Definition
Term
A myelomeningiocele is a defect seen in new borns where you can see the __ __ and ___. If it is an open defect it is called ___ ___. This is why you take folate.
 Definition
- spinal cord
- meninges
- spina bifida
Term
list 3 congenital malformations:
 Definition
- tetralogy of fallot congenital heart disease
- anencephaly
- myelomenigiocele
Term
____ occurs when the mother has reduced amniotic fluid causing compression while in utero. This is a ___ ___ not a malformation. This causes the deformities seen in ___ ___ such as:
 Definition
- Oligohydramnios
- congential deformity
- Potter's syndrome
- abnormal ear lobation
- micrognathia (small jaw)
- flattened nasal tip
Term
Congential ___ of the right lobe of this liver, is complete absense of this organ due to lack of ___ ___.
 Definition
agenesis
primordial tissue
Term
Agenesis of the corpus callosum is a rare congenital abnormality in which there is a partial or complete absence (agenesis) of the corpus callosum
 Definition
Term
Aplasia is a term to describe a tissue that is present but that never ____.
 Definition
develops
Term
Lung aplasia:
 Definition
- primordial tissue leads to rudimentary bronchus that ends in a blind pouch without pulmonary vasculature or lung parenchyma
Term
With lung hypoplasia, the development is ____, but the histology is ___ .
 Definition
development is incomplete
histology is normal
Term
Microcephaly is an example of ____ in which the circumference of the head is smaller than it should be b/c the brain has not developed properly or has stopped growing. It is most often caused by ___ ___ that interfere with growth of the ____ ____ during early months of fetal development. Children with this condition may have mental retardation, delayed motor function and speech, and other brain or neurological problems.Some children will end up normal and their head will grow.
 Definition
- hypoplasia
- genetic abnormalities
- cerebral cortex
Term
With Hypoplastic Left Heart syndrome, the development is ___ but the histology is ___. With this condition the left side of the heart (aortic and mitral valves, and left ventricle)are very small. The left side cannot pump out blood to body effectivley so ___ heart has to take over
 Definition
development is incomplete
histology is normal
right
Term
Congenital microtia is ___ ___ __ and ___. External canal atresia is ___ formation of the ___.
 Definition
- small malformed auricle and pina
- incomplete formation of the lumen
Term
small malformed auricle and pina is called:
 Definition
congenital microtia
Term
when the ear canal lumen does not completely form it is called:
 Definition
external canal atresia
Term
atresia means incomplete formation of a ___.
 Definition
lumen
Term
esophageal atresia is incomplete formation of the esophageal lumen. This can be fixed by surgery.
 Definition
Term
look over slide 110 of genetics lecture and make sure you understand it all.
 Definition
Term
Amniocentesis involves the removal of amniotic fluid surrounding the fetus after ___ weeks of pregnancy.
 Definition
14
Term
Amniotic fluid is produced by the ___ ___ and contains cells from the fetus. The cells are removed by inserting a needle through the __ ___, ___ , and into the amniotic fluid
 Definition
- amnion membrane
- abdominal wall
- myometrium
Term
After drawing out the amniotic fluid it is ____, the cells are ___, and then subject to ____ which takes __ weeks to develop.
 Definition
- centrifuged
- incubated
- karyotyping
- 2 weeks
Term
The amniotic fluid aka ____ can be used to test for ___ ___ disorders such as ___ ___.
 Definition
- supernatant
- neural tube disorders
- spina bifida
Term
___ ___ ___ involves the sampling of the chorion, which is one of the ___ ___. This can occur after __ __ of pregnancy. A ___ is inserted in vagina and a sample is taken of chorion. The sample is extracted and ___ to produce cells for ____, which takes a __ __.
 Definition
- Chorionic villus sampling
- extra-embryonic membranes
- 8 weeks
- catheter
- karyotyping
- few days
Term
layers from outermost to innermost surrounding fetus:
 Definition
vagina> amnion membrane> amniotic fluid> placenta> chorion
Term
An ____ is a birth defect known as a ventral wall defect, which involves the ___ area of the fetus. This defect causes the organs to herniate into the base of the umbilical cord. This diagnosis is usually made via ___ ____ following an elevated ___ ___ ___ ___ ___ _____ test.
 Definition
- omphalocele
- abdominal
- imaging ultrasound
- second trimester maternal serum alpha-fetoprotein test
Term
According to the American College of Obstetricians and Gynecologists, it has become standard in prenatal care to offer screening tests for neural tube defects and genetic abnormalities.
 Definition
Term
The current maternal serum analytes in use in most areas are: KNOW THESE:
 Definition
- alpha-fetoprotein (AFP)
- human chorionic gonadotropin (hCG)
- unconjugated estriol
Term
Measurement of ___ alone can detect most neural tube defects and a small portion of trisomy 21 affected pregnancies in all ages.
 Definition
- alpha- feto protein
Term
Adding hCG and unconjugated estriol to the alpha-fetoprotein screen increases the rate of detecition of ___ __ and ___.
 Definition
trisomies 21 and 18
Term
if AFP is increased, but hCG is normal, and unconjugated estriol is normal, what do you suspect and how do you diagnose it?
 Definition
- neural tube defect
- ultrasound to determine gestational age
- ultrasonographic fetal survey and possible amniocentesis if gestational age over 14 weeks to check AFP and acetylcholineesterase levels
Term
If maternal serum has low AFP, high hcG and low unconjugated estriol, what do you suspect and how do you diagnose this?
 Definition
trisomy 21
amniocentesis
Term
If maternal serum is low in AFP, hcG and unconjugated estriol what do you suspect and how do you diagnose it?
 Definition
- trisomy 18
- amniocentesis for chromosome analysis
Term
Name 4 characeristics of aging:
 Definition
- injury to cell membranes and DNA due to free radicals
- increased cross linking of proteins
- errors in protein synthesis adversely affecting cell function
- programmed apoptosis gense are programmed to kill cells at a set time
Term
The teratogen alcohol can cause what birth defects:
 Definition
- leading cause of MR in western hemisphere
- microcephaly
- VSD
- ASD
- attention deficit
- diagnostic facial features (thin upper lip, flattening of groove between nose and upper lip, small eye openingins)
Term
The teratogen cocaine causes the following birth defects:
 Definition
- microcephaly
- low birth weight
- renal agenesis
- congenital heart disease
Term
the teratogen DES causes the following birth defects:
 Definition
- vaginal and/orcervical clear cell carcinoma
- mullerian defects
Term
the teratogen phenytoin causes the following birth defects:
 Definition
- nail and distal phalanx hypoplasia
- clef lip and or palate
- neuroblastoma
- bleeding (vitamin K deficiency)
Term
the teratogen isotretinoin causes what birth defects?
 Definition
- hearing defects
- missing ear lobes
- visual impairment
- facial dysmorphism
- metnal retardation
- CNS defects
- cardiovascular defects
Term
The teratogen Thalidomide causes :
 Definition
- amelia (absent limbs)
- phocomelia (seal like limbs)
- deafness
Term
tobacco is a teratogen that causes:
 Definition
IUGR
low birth weight
Term
Valproate is a teratogen that causes:
 Definition
neural tube defects b/c this is a folate antagonist
autism
Term
Warfarin is a teratogen that causes:
 Definition
- nasal hypoplasia
- agenesis of corpus callosum
- fetal bleeding and death
Term
define torch syndrome:
 Definition
one that is passed from mother to child
- Cytomegalovirus
- herpes simplex 2
- rubella
- syphilis
- toxoplasmosis
- varicella
- HIV
Term
Toxoplasmosis is transmitted ____ and causs fetal:
 Definition
- transplacental
- blindness (chorioretinitis)
- deafness (sensorineural)
- CNS calcifcation (basal ganglia)
- IUGR
- hydrocephalus
- hepatosplenomegaly

Pregnant women should avoid cat litter and eating raw meat to avoid toxoplasmosis.
Term
Herpes simplex 2 is spread via the ___ ___ and causes ___, ___ ___ or ___, ______, and ___.
 Definition
- birth canal
- IUGR
- vesicular lesions or scarring
- keratoconjunctivitis
- microcephaly
Term
Rubella is spread ____ and causes ___, ___, ___ , ____ , and ___.
 Definition
- transplacental
- deafness sensorineural
- PDA
- cataract
- thrombocytopenia
- hepatomegaly
Term
syphilis is spread transplacental and occurs after 20 weeks gestation, it causes hepatitis, saddle nose, blindness,and peg teeth.
 Definition
Term
Varicella is spread ____ and causes limb defects, MR, blindness, cataracts, and skin scars.
 Definition
transplacental
Term
How is HIV spread and what does it result in?
 Definition
- transplacental, birth canal, breast feeding
- oral thrush
- recurrent bacterial infections
- intracranial calcifications
- failure to thrive
Term
define the Lyon hypothesis:
 Definition
- in females one of the x chromosomes is randomly inactivated
- the inactivated x chromosome is called a Barr body and is attached to nuclear membrane of cells and are visible in squamous cells obtained by scraping the buccal mucosa
- normal females have one barr body and normal males have none
- so in females 50% of x's are from mom and 50% from dad
Term
short arm of chromosome is the __ arm. long arm of chromosome is the __ arm.
 Definition
short p arm
long q arm
Term
Thalasemia:
 Definition
nonsense mutation> premature stop codon> beta globulin chain does not get transcribed> no synthesis of hemoglobin A> microcytic anemia
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