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Partial monosomy of the long arm of chromosome 16 in a malformed newborn: Karyotype 46,XX,del(16)(q21)

✍ Scribed by J. P. Fryns; S. Melchoir; J. Jaeken; H. Berghe

Publisher: Springer
Year: 1977
Tongue: English
Weight: 214 KB
Volume: 38
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00402162

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✦ Synopsis

A polymalformed newborn with partial monosomy for the long arm of chromosome 16 is presented. Karyotype 46,XX,del(16)(q21).

Numerical abnormalities of chromosome 16 have never been reported in liveborn infants, and only one case of partial trisomy for the long arm of chromosome 16 in a polymalformed newborn male child (karyotype 47,XY,+16q) has been published (Schmickel et al., 1975).

This report describes the first case of partial monosomy of the long arm of chromosome 16 in a live-born child. Karyotype: 46,XX,del(16)(q21).

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