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Hum Genet. 1979 Jan 19;46(1):115-20.

Partial monosomy of the long arm of chromosome 16: a distinct clinical entity?

Abstract

A 7-month-old male child with a de novo, seemingly balanced reciprocal 5p/16q translocation and karyotype 46,XY,t(5;16) (p14;q21), resulting from a maternal meiotic error, is described. The clinical findings in this patient are strikingly similar to those in the only patient with partial deletion 16q hitherto described, [del(16)(q21)], indicating that during the 5p/16q rearrangement, 16q material was lost and suggesting that partial or total deletion of the long arm of chromosome 16 distal to band q21 is accompanied by a distinct clinical phenotype.

PMID:
429002
[Indexed for MEDLINE]
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