Genetics Flashcards
(36 cards)
1
Q
Risk of down recurring
A
1-2%
2
Q
Cardiac Anomaly in down’s
A
ECD>VSD>PDA>ASD
3
Q
GI anomalies in Down’s
A
Hirschsprung’s
Duodenal atresia
4
Q
ALL
A
Down’s
5
Q
Hypothyroidism
A
Down’s
6
Q
trisomy 18
A
Edwards
7
Q
Low set, malformed ears, microcephaly, micrognathia
A
Edwards
8
Q
Clenched hand
A
Edwards
9
Q
Short sternum
A
Edwards
10
Q
Rocker bottom feet
A
Edwards
11
Q
Omphalocele
A
Edwards
12
Q
trisomy 13
A
Patau Syndrome
13
Q
Holoprosencephaly
A
Patau Syndrome
14
Q
Microcephaly, micropthalmia
A
Patau Syndrome
15
Q
Severe cleft lip/palate
A
Patau Syndrome
16
Q
Postaxial polydactyly
A
Patau Syndrome
17
Q
Aniridia
A
Wilms tumor
18
Q
deletion 11p13
A
WAGR syndrome
19
Q
Behavioral problems
Long limbs
Hypogonadism
Gynecomastia
A
Klinefelters
20
Q
Broad chest Wide spaced nipples Webbed posterior neck Cubitus valgus Horseshoe kidney Bicuspid aortic valve/Coarctation Hypothyroidism
A
Turner Syndrome
21
Q
CGG repeat
A
Fragile X
22
Q
X linked dominant
A
Fragile X
23
Q
Mental retardation
Dysmorphic facial features
Large testes
A
Fragile X
24
Q
Macrosomia Macroglossia Beta Cell Hyperplasia Omphalocele Hemihypertrophy
A
Beckwith-Wiedemann Syndrome
25
IGF-2 disrupted at 11p15.5
Beckwith-Wiedemann Syndrome
26
Wilms tumor risk
Beckwith-Wiedemann Syndrome
27
deletion at 15q11/q13 on paternal Chromosome
Parder-Willi
28
Obesity
Hyperphagia
Small hands, feet and genitalia
Hypothalamic-pituitary dysfunction
Parder-Willi
29
deletion of 15q11q13 on maternal chromosome
Angelman Syndrome
30
Severe MR
Inappropriate laughter
Absent speech
Ataxia/choreform
Angelman
31
Micrognathia
Retroglossia
Cleft soft palate
Robin Sequence
32
Droopy ears
Hyperextensable skin
Blue sclera
Aortic root dilitation
Ehler Danlos
33
```
IUGR
MR
Microcephaly
Hyperactivity
Abnormal frontal lobe
Cardiac VSD>ASD
```
FAS
34
Hirsutism
| Cupid's bow lips
Hydantoin syndrome
35
Midface hypoplasia
Cardiac
Meningomyelocele
Valproate Syndrome
36
Facial asymettry
Conotruncal malformations
CNS malformations
Retinoid acid embryopathy
