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Am J Med Genet. 2000 Mar 20;91(3):201-3.

First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH.

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1
Regional Medical Genetics Centre, Belfast City Hospital Trust, Belfast, United Kingdom.

Abstract

Partial trisomy of 19q has been reported in only 13 patients, of which all but one have been due to unbalanced translocations. Only one previous report of a de novo duplication of distal 19q has been described in a fetal chorionic villus sample. There was no description of clinical phenotype in this report. We describe the clinical manifestations and cytogenetic analysis in a child with an inverted duplication of 19q 13.3 to 13.4 confirmed by FISH using a chromosome 19 whole chromosome probe. This case represents the first report of a liveborn with "pure" distal trisomy 19q. Findings defining this uncommon aneusomy are a flat facies, down turned mouth, abnormal ears, and a short neck with redundant skin folds.

PMID:
10756343
[Indexed for MEDLINE]
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