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Am J Med Genet. 2000 Jul 17;93(2):107-9.

Interstitial deletion of 5q33.3q35.1 in a girl with mild mental retardation.

Author information

1
Center for Human Genetics and Genetic Counselling, University of Bremen, Germany. spranger@uni-bremen.de

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.

PMID:
10869111
[Indexed for MEDLINE]

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