Familial transmission of Wolf syndrome resulting from specific deletion 4p16 from t(4;8)(p16;p21) mat.
- 28 June 2008
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 31 (6) , 366-369
- https://doi.org/10.1111/j.1399-0004.1987.tb02825.x
Abstract
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 .fwdarw. 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.Keywords
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