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Am J Med Genet. 1998 Jan 6;75(1):75-7.

Familial dup(5)(q15q21) associated with normal and abnormal phenotypes.

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  • 1Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520-8005, USA.


We studied a familial dup(5q) present in a phenotypically normal father and his monozygotic twin daughters with different abnormal phenotypes. High-resolution chromosome analysis suggested that the duplicated segment was of region q15-21, which seems to be the smallest dup(5q) reported thus far. This dup(5q) was confirmed by fluorescence in situ hybridization with a chromosome 5 painting library and 5q cosmid clones. The presence of the dup(5q) in a normal father suggested that the duplication itself may be harmless. The anomalies in the twins may be due to processes other than this chromosome change.

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