Fragile X syndrome Flashcards
(4 cards)
1
Q
etiology
A
X-linked Dominant ; due to Trinucleotide [CGG] repeat in FMR1 gene
2
Q
Most common cause of inherited intellectual disability
A
Fragile X syndrome
3
Q
Most common cause of genetic intellectual disability
A
-down syndrome
4
Q
features
A
*- Head:
Macrocephaly , Large everted Ears , Large & narrow Face , Long prominent Jaw
& Forehead - Enlarged Testicles AFTER puberty - *heart: MVP (midsystolic click )
* Psychiatry: Autism(each autism child should be screened for fragile x)
