Genetic Diseases Flashcards
1
Q
Rocker bottom Feet
A
Edwards (Tri 18)*
2
Q
Clenched Hands w/ overlapping 4+5th fingers
A
Edwards (Tri 18)*
3
Q
Edwards Presentation
A
- Rocker bottom feet
- Micrognathia
- Clenched hands (overlapping fingers)
- Death w/in 1 yr
4
Q
Disease asst with Down’s Syndrome
A
- ALL
- Hypothyroidism
- Early-onset Alzheimer’s
- Hurtsprungs Disease
- Duodenal atresia
5
Q
Down Syndrome Presentation:
A
- Flat faces
- up-slanting eyes
- Simian crease
- Atlantoaxial instability (laxity in Transverse lig)
6
Q
Patau Syndrome Presentation
A
- Microphthalmia
- Microcephlay
- Cleft-lip / palate
- Polydactyly
7
Q
Klinefelter’s Synd Presentation
A
- 47, XXY
- Hypogonadism / Testicular atrophy
- Tall stature
- Long extremities
- Gynecomastia
- Female hair distribution
8
Q
XYY
A
- Phenotypically normal
- Antisocial behavior
9
Q
Phenylketonuria Presentation
A
- Screened for at birth in USA –>immigrant & granola-mom
- Musty urine odor
- Facial & body hair
- Tx: NO Phenylalanine (artificial sweetener) & Inc. Tyrosine
10
Q
Fragile X Synd Presentation
A
- X-linked Dominant
- # 2 cause of genetic mental retardation -> autistuc behavior
- Large ears
- Larger testes
- Larger Jaw
11
Q
Cystic Fibrosis Presentation
A
- Auto. recessive
- CFTR mutation (Chrom 7)
- # 1 genetic disease in US (mainly Caucasians)
- Chronic Sinopulmonary disease
- Meconium Ileus
- Panceatitis
- Greasy stools
- ## Infertility (vas. def. agenesis)
