<unk>  is a microdeletion syndrome caused by a deletion within HSA band 4p16.3 of the short arm of chromosome 4, particularly in the region of WHSCR1 and WHSCR2. About 87% of cases represent a de novo deletion, while about 13% are inherited from a parent with a chromosome translocation. In the cases of familial transmission, there is a 2 to 1 excess of maternal transmission. Of the de novo cases, 80% are paternally derived. Severity of symptoms and expressed phenotype differ based on the amount of genetic material deleted. The critical region for determining the phenotype is at 4p16.3 and can often be detected through genetic testing and fluorescence in situ hybridization (FISH). Genetic testing and genetic counseling is offered to affected families.
Wolf–Hirschhorn syndrome
Testicular dysgenesis syndrome
Dubowitz syndrome
Weissenbacher–Zweymüller syndrome
Marden–Walker syndrome
Roberts syndrome
Keppen–Lubinsky syndrome
Kallmann syndrome