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

作者信息

Taysi K, Noetzel M J, Strauss A W

出版信息

Hum Genet. 1979 Sep 2;51(1):49-53. doi: 10.1007/BF00278291.

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.

摘要

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