Deletion of proximal 6q: A clinical report and review of the literature
- 1 November 1986
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 25 (3) , 467-471
- https://doi.org/10.1002/ajmg.1320250308
Abstract
We report on a 13‐year‐old boy who had an interstitial deletion of the long arm of chromosome 6[46,XY,del(6)(pter→ql3::ql5→qter)]. A characteristic facial appearance with facial asymmetry, vertebral anomalies, valgus heels with flat feet, and congenital heart defect seem to form part of a specific del 6q syndrome.Keywords
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