Genetic DZ Flashcards
1
Q
Mitochondrial Genome
A
- Myoclonic epilepsy & Red-ragged fibers (MERRF)- myopathy, dementia, hearing loss
- Mitochondrial encephalopathy & Lactic Acidosis (MELAS)
- Leigh Dz- basal ganglia defects, hypotonia & optic atrophy
- Kearns-Sayre Sy- ophthalmoplegia, retinitis pigmentosa, myopathy, cardiac conduction defects
- Pearson Sy- anemia, neutropenia, pancreatic dysfunction, myopathy
2
Q
Trinucleotide Repeat Dz
A
- Fragile X Sx- most common inherited mental retardation Sy
- Myotonic dystrophy AD-involve facial & jaw M
3
Q
4p- Wolf-Hirschhorn Sy
A
- “Greek helmet” facies
- “beaked” nose
- seizures
4
Q
5p- Cri du Chat
A
- cat’s cry
- “moon face”
- short stature
- High-arched palate
- MR
5
Q
18q- De GROUCHY Sy
A
- Atretic or narrowed ear canals
- Frog-like position w/ legs flexed
6
Q
9p-
A
- Trigonocephaly (triangle head)
- exophthalmous
- short neck w/ pterygium colli
7
Q
7q11- Williams Syndrome
A
Missing elastin gene
- Friendly “cocktail party” personality
- Supravalvular aortic steanosis
8
Q
11p13- WAGR
A
- Wilms tumor
- Aniridia
- Genitourinary malformations
- mental retardation
9
Q
20p12- Alagille Sy
A
AD
- Bile duct paucity w/ cholestasis
- PVS & peripheral & branch pulmonic artery steanoses
- triangular facis w/ promintent chin
10
Q
22q11- DiGeorge Sy
A
CATCH 22
- Cleft palate
- Abscent thymus/thyroid-para- immune deficiencies, low Ca
- Congenital Heart Dz TOF> interrupted aortic arch > VSD > truncus arteriosus
11
Q
47,XXY Klinfelter Sy
A
- tall
- gynecomastia
- small testes & infertile
12
Q
45X Turner Sy
A
- Short
- ovarian failure with lack secondary development
- 50% Bicuspid aortic valves 20% coarctation of aorta
13
Q
Pierre-Robin Sequence
A
Cause mandibular hypoplasia
- glossoptosis (down ward displaced of tongue
- cleft palate
14
Q
Goldenhar SY
A
- hemifacial microsomia plus (cervical ventebral, renal & cardiac abnorm)
- epibulbar lipodermoids
15
Q
Most common single suture fusion
A
- Sagittal synostosis
