Boy with a chromosome del (3)(q12q23) and Blepharophimosis syndrome
- 1 November 1992
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 44 (4) , 434-436
- https://doi.org/10.1002/ajmg.1320440409
Abstract
We report on a 6‐year‐old boy with de novo 46, XY, del(3)(q12q23) and bilateral blepharo‐phimosis, ptosis, epicanthus inversus, in addition to multiple other anomalies. Since 4 previously reported cases of interstitial deletion of 3q involving 3q23 band are clinically similar, we propose this blepharophimosis sequence due to 3q23 deletion as a further “contiguous gene syndrome”.Keywords
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