Genetics Flashcards
1
Q
Patau is trisomy __, Common complication is ___
A
13, Single umbilical artery
2
Q
Prader Willi Syndrome is a paternal/maternal syndrome?
A
Deletion on Paternal 15q11
3
Q
Prader Willi Syndrome clinical features
A
Hypotonia
Hyperphagia
Hypogonadism
4
Q
Angelman Syndrome
A
Seizures Ataxia Retardation Inappropriate laughter "Mom wears SARI"
5
Q
Turner Syndrome
A
Horseshoe kidney CLOWNS: Coarctation of aorta/Bicuspid aortic valve Lymphedema Ovary underdeveloped: Amennorrhea Nipples wide space Short stature
6
Q
Down syndrome features:
A
Hypothyroidism
Duodenal Atresia
AVSD
Atlantoaxial instability
7
Q
Down syndrome screening:
A
CBC
Thyroid
Echo
Hearing test
8
Q
WAGR Syndrome features:
A
Wilms tumor
Aniridia
Genitourinary abnormalities
Retardation
9
Q
Prune belly syndrome
A
Absent abdominal muscle
Severe urinary tract malformation
Bilateral cryptorchidism
10
Q
Coarse hair Hirsutism Hyperactivity with aggression Sleep disorders Hepatosplenomegaly
A
San Filipino
11
Q
Deletion in paternal germ cell: _____
Deletion in maternal germ cell: _____
A
Paternal: Prader Willi
Maternal: Angelman
