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Chapter 12
Chromosomes and human inheritance
46
Biology
Undergraduate 1
12/08/2011

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Term
Female chromosome
Definition
XX
Term
male chromosome
Definition
XY
Term
What dictates the gender?
Definition
sex chromosome
Term
Autosomes
Definition
same chromosomes that are in both male and females
Term
Karyotype
Definition
diagnostic tool.
Preparation of an individual's methaphase chromsome
Term
Colchicine
Definition
poison that blocks spindle formation by preventing microtubles from forming
Term
Achondroplasia
Definition
autosomal condition that effects 1 in 1000
Term
Galactosemia
Definition
effect 1 in 100000 newborns
Term
Hutchinson-Gilford Progeria Syndrome
Definition
aging too fast
Term
Y chromosome carries ___ genes
Definition
255
Term
X chromosome carries ___ genes
Definition
1141
Term
SRY gene
Definition
master gene for male sex determination
Term
Morgan's idea of X-linked gene came from?
Definition
Mendel's concept of segregation
Term
Hemophilia A
Definition
effects 1 in 7000 males
Term
Duplication
Definition
sequences in DNA that are repeated
Term
When can duplication occur?
Definition
unequal crossover at Prophase I
Term
Deletion
Definition
loss of some portion of chromosome
Term
Inversion
Definition
sequence of DNA becomes reverse
Term
translocation
Definition
a broken part of one chromosome attaches to another chromosome
Term
Aneuploidy
Definition
one extra or one less chromosome
Term
Nondisjuction
Definition
one or more pairs of chromosome do not separate during mitosis or meiosis
Term
Polyploidy
Definition
three or more of each type of chromosome
Term
Newborn with three chromosome 21 ends up with?
Definition
down syndrome
Term
The __ of chromosomes in a cell are compared to construct karyotypes.
Definition
Length, shape, and centromere location
Term
The __ determines gender in humans.
Definition
SRY gene
Term
If one parent is heterozygous for a dominant allele on an autosome and the other parent is homozygous, any child of theirs has a __ chance of being heterozygous.
Definition
50%
Term
Expansion mutations occure ___ within and between genes in human chromsomes
Definition
frequently
Term
Galactosemia is a case of __ inheretance
Definition
autosomal recessive
Term
Is this true or false.
A son can inherit an X-linked recessive allele from his father.
Definition
False. only from the mother
Term
Color blindness is a case of __
Definition
X-linked recessive
Term
A (An) __ can alter chromosome structure.
Definition
deletion
duplication
inversion
translocation
Term
Nondisjunction may occur during __
Definition
mitosis and meiosis
Term
Is this true or false.
Body cell sometimes inherit three or more of each type of chromosome characteristic of the species, a condition called aneuploidy.
Definition
False it is called polyploidy
Term
The karyotype for Klinefelter syndrome is __
Definition
XXY
Term
A recognized set of symptoms that charactirizes a specific disorder is a
Definition
syndrome
Term
Number and defining features of an individual's metaphase chromosomes.
Definition
Karyotype
Term
Segment of a chromosome moves to a nonhomologous chromosome
Definition
translocation
Term
extra chromosome set
Definition
polyploidy
Term
one outcome: gametes with wrong chromosome number
Definition
nondisjunction
Term
a chromosome segment lost
Definition
deletion
Term
change by one chromosome
Definition
aneuploidy
Term
Examples of Autosomal recesive inheritance
Definition
Albinism
Blue offspring
Cystic fibrosis
[skin abnormality, extra fingers]
ellis-van creveld syndrome
Fanconi anemia
Galactosemia
Phenylketonuria
Sickle-cell anemia
Term
Examples of X-linked recessive inheritance
Definition
Androgen insensitivity syndrome
Red-Green Color blindness
Fragile X syndrome
Hemophilia
Muscular dystrophies
X-linked anhidrotic dysplasia
[shows female traits in male]
Term
Examples of autosomal dominant inheritance
Definition
achondroplasia
camptodactyly
familial hypercholesterolemia
huntington's disease
marfan syndrome
polydactyly
progeria
neurofibromatosis
[drawf, aging abnormaility]
Term
Examples of changes in chromosome sturcture
Definition
Chronic myelpgenous leukemia
Cri-du-chat syndrome
[organ malfunctions bc of overproduction]
Term
Examples of changes in chromosome number
Definition
down syndrome
turner syndrome
klinefelter syndrome
XXX syndrome
XYY condition
[sometimes do not show symptoms but mainly mental conditions]
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