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Hum Genet. 1979 Sep 2;51(1):49-53.

Presumptive long arm deletion of chromosome 8: a new syndrome?

Abstract

This communication describes an infant with growth and psychomotor retardation and severe congenital malformations, who was found to have an interstitial deletion of the long arm of chromosome 8: 46,XY,del(8) (q13q22). Comparison with the only other previously reported patient with a deletion of a similar chromosomal segment suggested that deletion of the long arm of chromosome 8 may constitute a clinically recognizable syndrome.

PMID:
500091
[PubMed - indexed for MEDLINE]
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