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| An elderly mother gave birth to a child with a flat face, simian creased hands, mental retardation, short stature, upward (mongoloid) slant to eyes, epicanthic folds, small centrally placed facial features, large tongue (macroglossia), common heart defect (ventricular and/or atrial septal defect). The child had acute leukemia as a baby and had symptoms of Alzheimer like dementia as an adult. The child most probably had what genetic disorder? |
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| An elderly woman gave birth to a child with microcephaly, micrognatia (small recedign chin), flexion deformities in fingers 5th over 4th and 2nd over 3rd, renal malformation, rocker bottom feet, and sever mental retardation. The doctor told the mother that most babies born with this disorder die by age one. What genetic disorder does this baby most probably have? |
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| An elderly woman gave birth to a child with microcephaly, cleft lip/palate, polydactyly (extra fingers/toes), renal malformation, rocker bottom feet and sever mental retardation. What is this genetic disorder? |
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| A child was born and immediately the doctor begins thinking to himself "CATCH-22". What genetic disorder is he referring to? |
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Definition
Di-George Syndrome
C- Cardiac defect
A - Abnormal facies
T - Thymic Hypoplasia
C - Cleft lip/cleft palate (not always present)
H - Hypocalcemia |
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Term
| This syndrome is due to an embryologic defect with abnormal/lack of migration of 3rd and 4th pharyngeal pouches. This means that there will be an absent or aberrant location of the thymus and parathyroid glands. These aberations lead to a loss of T-lymphocyte function which is documented by few T-cell via flow cytometry. |
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| A disease in which only one bad gene is needed to develop it. It involves a mutation affecting fibrillin which is important in connective tissue found in large blood vessels, heart valves, and eyes. Individuals with this syndrome are usually tall, have long fingers and toes (arachnodactyly), and have dislocated eye lenses bilaterally. When examining the heart of these individuals you may there is a midsystolic click, mitral valve prolapse, and complications which develop from aortic dissection (often fatal; dissection going into pericardium with hemopericardium and fatal cardiac tamponade). |
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| A young girl was found to have a mutation in her LDL receptor which caused massive accumulation of "bad" cholesterol. She recently was diagnosed as having premature atherosclerosis and just the other day she complained of chest pain (angina) and had a myocardial infarction. The doctor was not surprised about these events because he knew that an individual with this disorder was at increased risk of stroke. Upon physical examination xanthoma/xanthelasma with yellow deposits in the skin due to lipid accumulation in histocytes were found. What is this disorder. |
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Definition
| Familial hypercholesterolemia |
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| A syndrome due to mutation in neurofibromin in which there are multiple cutaneous neurofibromas pathognomonic plexiform type which grossly looks like a "bag of worms". There are multiple cafe-au-lait macules on skin. You can also see Lisch nodules which are pigmented hamartomas in the irises of the eyes. There is also a small risk of development of malignant peripheral nerve sheath tumor. |
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| A syndrome due to a mutation in merlin. Individuals are at risk for developing bilateral schwannomas called "acoustic neuromas" which are found at the cerebellopontine angles of the brain; causes you to get hearing loss or tinnitis (ringing in the ears). There is also an increased number of meningiomas, and cafe-au-lait macules (flat pigmented skin patches) |
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| An autosomal recessive disorder in which you need two bad genes to have the disease. Urine turns dark when left standing. There is early onset osteoarthritis of spine and hips due to pigment deposits in cartilage. There is also deposits in vessels leading to premature athersclerosis. |
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| An autosomal recessive deficiency disorder in which if a certain amino acid is not restricted in the diet, may lead to early development of mental retardation. Individuals have pale sin, blonde hair, they can't walk/talk and may have eczema of skin. If a mother with this disorder does not follow dietary restriction during pregnancy, this particular amino acid may act as a terotogen. This amino acid is found in artificial sweetner containing aspartame. What is this disorder? |
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Definition
Amino acid - phenylalanine
Phenylketonuria (PKU) |
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Term
autosomal recessive, very common in cultures in which cousins marry, found in Caucasians, thick viscid secretions since blockage in chloride channel, lungs and pancreas most greatly affected, recurrent lung infections due to Pseudomonas aeruginosa, Staphylococcus aureus, Hemophilus influenzae, Burkholderia cepacia; loss of exocrine pancrease due to fibrosis, malabsorption with fatty stools (steatorrhea) and loss of coagulation factors, recurrent pneumonia, baby tastes "salty," diagnosed in infancy in 10% if have meconium ileus with atresia of small bowel, sweat chloride screening test, confirm with PCR |
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| with manifestations by 6 months, autosomal recessive very common among Ashkenazi Jews, hexosaminidase A enzyme deficiency, progressive neurologic deficit with death by age 2-3 due to accumulation of histiocytes containing ganglioside in brain, "cherry red" spot involving macula of retina, blindness, obtundation, floppy baby, death sentence |
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| type 1, nonneuronopathic so CNS not involved, autosomal recessive, glucocerebrosidase deficiency with accumulation of glucocerebrosides in histiocytes having a "wrinkled tissue paper" look in spleen and bone, may present in early adulthood, large spleen splenomegaly with abdominal discomfort, anemia and/or thrombocytopenia (low platelets), bone pain due to pathologic fracture of long bone like the femur |
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need >230 triplet repeat mutations/expansions of CGG to have manifestation of mental retardation, large testes (macro-orchidism), large ears, prominent jaw |
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huntingtin gene mutation located on chromosome 4p, need >35-40 triplet repeat mutations/expansion of CAG for progressive neurologic deterioration beginning in mid30s, death sentence, loss of gamma aminobutyric acid (GABA), loss of brain cortex in putamen and caudate nuclei with enlarged ventricles |
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| intiially floppy baby, mental retardation, later development of incredibly huge voracious appetite so marked obesity, small almond shaped eyes, tent-shaped mouth, hypogonadism, due to genomic imprinting, methylation leading to silencing of paternally derived q12 band on chromosome 15 |
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| due to genomic imprinting, methylation leading to silencing of maternally derived q12 band on chromosome 15, "happy puppet" syndrome, very severe mental retardation, can't talk, chronic seizures, jerky movements of extremities, protruding tongue, flat head |
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pink or red urine due to hemolytic anemia, result of exposure to sulfonamides or primaquine, X-linked recessive inheritance so mother transmits disease to 50% of sons |
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Definition
| Glucose-6 Phosphate dehydrogenase (G6PD) deficiency |
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, only 1% live born, webbed neck due to resolution of cystic hygroma (lymphangioma before birth), lack of secondary sex characteristics, short stature, amenorrhea due to fibrous "streak" ovaries, often present at puberty with infertility, normal intelligence, other malformations including horseshoe shaped kidney and preductal coarctation (narrowing) of the aorta, congenital nevi; 57% 45,X |
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male infertility, gynecomastia, tall with central body fat (trunkal obesity), decreased pubic hair in female distribution, no malformation, meiotic nondisjunction due to advanced maternal age, 82% 47,XXY |
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manifest at 6-12 months with progressive neurologic deficit, sphingomyelinase deficiency, accumulates in histiocytes in the brain and the spleen so splenomegaly |
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| Niemann Pick disease Type A |
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manifest at 1-2 years, lysosomal storage disorder, mucopolysaccharidosis, gargoylism with coarse facial features, coarse hair, mental retardation, cloudy corneas, short stature, claw hands, hepatosplenomegaly, l-iduronidase deficiency, Alder-Reilly anomaly (prominent purple granules) seen in white blood cells in a peripheral blood smear |
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phenylalanine hydroxylase deficiency, pale hair and pale skin due to tyrosine deficiency, eczema skin rash, severe mental retardation iby 3-6 months if no dietary restriction of phenylalanine, musty or mousy body odor |
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absent groove (philtrum) between upper lip and nose, flat thin upper lip, many behavioral problems, hearing loss, impulsive behavior, hyperactivity, even two drinks can have adverse effects |
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in toddler, autosomal dominant, RB gene mutation on chromosome 13q14, two hit hypothesis with first hit in germline and second hit in somatic cell, leukocoria (white pupil), eye pain, vision problems, small blue round cell tumor with Flexner-Wintersteiner true rosettes involving retina, later risk of developing osteosarcoma |
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most common renal tumor in small child, autosomal dominant, again often toddler, associated with syndromes including Beckwith-Wiedemann with large for gestational age infant, hemihypertrophy (one side of body larger than the other side), macroglossia (enlarged tongue), Wilms tumor with this syndrome have mutation involving WT2 on 11p15.5, Wilms tumor triphasic with blastemal, epithelial, and stromal elements, unfavorable prognosis if have anaplasia or multipolar mitoses |
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(hereditary nonpolyposis colorectal carcinoma) syndrome, large often ulcerated colon cancer on the right side (cecum, ascending colon) so present with iron deficiency anemia, due to microsatellite instability detected by loss of immunostains, increased risk of other cancers including endometrial cancer |
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most common causes of hereditary breast cancer at a young age, Ashkenazi Jews, increased risk of ovarian cancer, male breast cancer, male prostate cancer |
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| BRCA1 mutation (and less so BRCA 2) |
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TP53 mutation breast cancer in 20s, increased risk of osteosarcoma, malignant brain tumor (glioblastoma multiforme) |
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