Genetic DZ

Question 1

Mitochondrial Genome

Answer 1

• • 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

Question 2

Trinucleotide Repeat Dz

Answer 2

• Fragile X Sx- most common inherited mental retardation Sy

- Myotonic dystrophy AD-involve facial & jaw M

Question 3

4p- Wolf-Hirschhorn Sy

Answer 3

• “Greek helmet” facies
• “beaked” nose
• seizures

Question 4

5p- Cri du Chat

Answer 4

• cat’s cry
• “moon face”
• short stature
• High-arched palate
• MR

Question 5

18q- De GROUCHY Sy

Answer 5

• Atretic or narrowed ear canals

- Frog-like position w/ legs flexed

Question 6

9p-

Answer 6

• Trigonocephaly (triangle head)
• exophthalmous
• short neck w/ pterygium colli

Question 7

7q11- Williams Syndrome

Answer 7

Missing elastin gene

• Friendly “cocktail party” personality
• Supravalvular aortic steanosis

Question 8

11p13- WAGR

Answer 8

• Wilms tumor
• Aniridia
• Genitourinary malformations
• mental retardation

Question 9

20p12- Alagille Sy

Answer 9

AD

• Bile duct paucity w/ cholestasis
• PVS & peripheral & branch pulmonic artery steanoses
• triangular facis w/ promintent chin

Question 10

22q11- DiGeorge Sy

Answer 10

CATCH 22

• Cleft palate
• Abscent thymus/thyroid-para- immune deficiencies, low Ca
• Congenital Heart Dz TOF> interrupted aortic arch > VSD > truncus arteriosus

Question 11

47,XXY Klinfelter Sy

Answer 11

• tall
• gynecomastia
• small testes & infertile

Question 12

45X Turner Sy

Answer 12

• Short
• ovarian failure with lack secondary development
• 50% Bicuspid aortic valves 20% coarctation of aorta

Question 13

Pierre-Robin Sequence

Answer 13

Cause mandibular hypoplasia

• glossoptosis (down ward displaced of tongue
• cleft palate

Question 14

Goldenhar SY

Answer 14

• hemifacial microsomia plus (cervical ventebral, renal & cardiac abnorm)
• epibulbar lipodermoids

Question 15

Most common single suture fusion

Answer 15

• Sagittal synostosis

Question 16

Sagittal –>

Answer 16

Long narrow head

Question 17

Coronal + sphenofrontal

Answer 17

unilateral flattening head, elevation of ipsilateral orbit/eyebrow

Question 18

Metopic sutures

Answer 18

-keel shaped forehead

Question 19

Achondroplesia

Answer 19

AD from new mutation 2nd inc dad age

• disproportionate short stature
• trident hands
• macrocephaly
• FORAMEN magnum STEANOSIS &/or CRANioCervical junction abnorma

Question 20

von Hipperl-lindau Sy

Answer 20

multiple cancers of eye, CNS kidneys, pancreas, adrenal

–> Classic: retinal angioma age 10 OR cerebellar hemangioblastoma adoles

Question 21

High AFP

Answer 21

• open neural tube defects
• defects of the genitourinary and gastrointestinal system
• Turner syndrome,

Question 22

Low AFP

Answer 22

• trisomy 18 and 21

Question 23

Trisomy 21 maternal screen

Answer 23

• LOW AFP & estriol

- HIGH HCG & inhibin