Week 3 Flashcards
1
Q
Turner’s Syndrome - phenotype
A
- Short stature (can treat with GH injections)
- Ovarian dysgenesis
2
Q
Turner’s Syndrome - genotype
A
- 45, X (50%)
- Only monosomy consistent with life (because it’s not autosomal)
- Can be 46, XX or 47, XXX
3
Q
Klinefelter’s Syndrome - phenotype
A
- Predominately male phenotypes
-
4
Q
Klinefelter’s Syndrome - genotype
A
- 47, XXY
5
Q
Down Syndrome - phenotype
A
- 40% have congenital heart defects (AVSD)
- Increased risk of Acute Lymphoblastic Leukemia (ALL)
- Reduced fertility
- Single palmar crease
- Flattened nose and face
- Flat back of head
- Upward slanting eyes
- Short fifth finger that curves inward
- Widely separated first and second toes
- Increased foot skin creases
- Mental retardation
- Diminished muscle tone
6
Q
Down Syndrome - genotype
A
- Trisomy 21
7
Q
Trisomy’s - phenotype
A
-
8
Q
Trisomy’s - genotype
A
- Gain of a chromosome
- Always from maternal side, spindle malfunction
- Trisomy 21 = Down Syndrome
- Trisomy 18 = Edward Syndrome
- Trisomy 13 = Patau Syndrome
9
Q
Monosomy - phenotype
A
-
10
Q
Monosomy - genotype
A
- Loss of a chromosome
11
Q
Patau Syndrome - phenotype
A
- Polydactyly
- Cleft lip, palate
- Microphthalmia (small eyes)
- Microcephaly
- Cardiac and renal defects
- Very poor prognosis
12
Q
Patau Syndrome - genotype
A
- Trisomy 13
13
Q
Edward Syndrome - phenotype
A
- Most don’t live past birth
- AVSD, PVD
- Hand and foot malformations
- Low-set ears
- Micrognathia (micro-Nathen)
- Prominent occiput
- Clenched hands with overlapping fingers
- Dysplastic or malformed ears
- Small mouth, small jaw, short neck
14
Q
Edward Syndrome - genotype
A
- Trisomy 18
15
Q
47 XYY - phenotype
A
-
