Interstitial deletion of 5q33.3q35.1 in a girl with mild mental retardation
- 21 June 2000
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 93 (2) , 107-109
- https://doi.org/10.1002/1096-8628(20000717)93:2<107::aid-ajmg5>3.0.co;2-8
Abstract
Constitutional interstitial deletions of 5q are uncommon. The corresponding phenotype is not well defined. But severe mental retardation seems to be a consistent manifestation. We describe a 4‐year‐old girl with a de novo deletion of 5q33.3q35.1 presenting only with mild psychomotor delay, minor facial anomalies, and seizures. Am. J. Med. Genet. 93:107–109, 2000.Keywords
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