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

K. Taysi, M. J. Noetzel, A. W. Strauss

Research output: Contribution to journalArticlepeer-review

22 Scopus citations

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.

Original languageEnglish
Pages (from-to)49-53
Number of pages5
JournalHuman genetics
Volume51
Issue number1
DOIs
StatePublished - Sep 1 1979

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