IVIC Syndrome Flashcards
1
Q
What are the symptoms of IVIC syndrome?
A
“Intrafamilial phenotypic variability of the same mutation”
Upper limb anomalies (radial ray defects, carpal bone fusion)
Oculomotor anomalies
Hearing loss
2
Q
What gene is involved in IVIC syndrome?
A
SALL4 on chromosome 20q13
this is a deletion that causes a frameshift with pre-terminal stop codon
3
Q
What is the inheritance pattern of IVIC syndrome?
A
Autosomal dominant
4
Q
Is the homozygous dominant for IVIC Syndrome lethal?
A
It is not lethal
