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17 Cards in this Set

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Endocardial cushion defects, duodenal atresia, Hirschsprung's disease, hypothyroidism, mental retardation, leukemia, Alzherimer's-like dementia
Trisomy 21 (Down's syndrome)
Rocker-bottom feet and micrognathia
Trisomy 18 (Edward's syndrome)
Microphthalmia, polydactyly, microcephaly, and cleft lip/palate
Trisomy 13 (Patau syndrome)
Most common chromosomal abnormality
Trisomy 21
Karyotype 45 XO
Turner's syndrome
Five dysmorphic features associated with Turner's syndrome
1. Lymphedema of the hands and feet
2. Shield-shaped chest
3. Widely spaced nipples
4. Webbed neck
5. Low hair line
Name 3 common cardiac defects associated with Turner's syndrome
Coarctation of the aorta, bicuspid aortic valve, and aortic stenosis
What gonadal abnormality occurs in 100% of Turner's patients?
Gonadal dysgenesis
What is the most common cause of hypogonadism in males?
Klinefelter's syndrome (47 XXY)
What are five clinical manifestations of Klinefelter's syndrome?
1. Small phallus
2. Small testes (hypospermia)
3. Gynecomastia
4. Increased height
5. Learning disability with normal IQ
What is a Barr body?
An inactivated X chromosome (associated with Klinefelter's syndrome)
What hormone is used to treat Klinefelter's syndrome?
Testosterone (improves secondary sexual characteristics and prevents gynecomastia)
What syndrome is assoiciated wiith uncontrollable appetite and Pickwickian syndrome?
Prader-Willi syndrome
What is the mode of inheritance in Prader-Willi syndrome?
Paternal immprinting
What disease is known as the "happy puppet" syndrome?
Angelman syndrome (due to ataxic gait and tiptoe walk, patients also have severe MR and episodes of uncontrollable laughter)
What is the mode of inheritance in Angelman syndrome?
Maternal imprinting
What inherited syndrome, characterized by severe MR, is caused by trinucleotide repeats?
Fragile X syndrome