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Am J Med Genet. 1998 Nov 2;80(2):133-5.

Partial trisomy of chromosome 6q: an interstitial duplication of the long arm.

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Kaiser Permanente Medical Center, Department of Genetics, Oakland, California, USA.


We report on a 5-year-old girl with a de novo interstitial duplication of chromosome 6q21-q23 and delayed development and speech with distinctive minor facial anomalies including a "carp" mouth. Fluorescence in situ hybridization using a chromosome 6 paint probe confirms that the extra material is of chromosome 6 origin. This further delineates the dup(6q) syndrome and the manifestations due to the specific duplicated chromosomal region involved.

[Indexed for MEDLINE]

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