Familial transmission of Wolf syndrome resulting from specific deletion 4p16 from t(4;8)(p16;p21) mat.
Wolf syndrome has been recognized since the mid-sixties. It has also been postulated that the loss of 4p16 is the primary reason for the syndrome. However, in a handful of cases the breakpoints have been identified, only a very few of which are exclusively 4p16. In this report we present familial transmission of 4p16 deletion (associated with 8pter----8p21 duplication) in three individuals with typical expression of Wolf syndrome. The transmission occurs from a de novo balanced maternal translocation, 46,XX,t(4;8)(p16;p21). An effort has also been made to distinguish the terminal deletion syndrome from the emerging interstitial deletion syndrome of 4p.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D002898:Chromosomes, Human, Pair 8; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014178:Translocation, Genetic