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Clin Genet. 1987 Jun;31(6):381-5.

Trisomy 2q and monosomy 11q in the same individual: the importance of considering the deleted segment.

Abstract

A female infant with multiple dysmorphic features and developmental delay was found to have partial duplication of the long arm of chromosome 2 and partial deletion of the long arm of chromosome 11 derived from a paternal balanced translocation, 46,XY,t(2;11)(q33:q25). Clinically, the infant had features of both 2q+ and 11q- syndromes. The importance of considering both the duplicated and deleted segment in unbalanced products resulting from familial translocations is emphasized.

PMID:
3621640
[PubMed - indexed for MEDLINE]
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