☆ 4.2 Article

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)

期刊

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

卷 146A, 期 14, 页码 1871-1874

出版社

WILEY-LISS

DOI: 10.1002/ajmg.a.32392

关键词

trisomy 22; cat eye; supernumerary marker; TAPVR

类别

Genetics & Heredity

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摘要

S111all SLIpernLitnerary niarker chroinosonies are I-)resent in aboLit 0.05% of the hLinian pol:)tilation. In approxiniately 28% of 1)ersons with these niarkers (exClUcling the 60% cleriN7ecl froin one of the acrocentric chroniosornes), an ahnorn-ial Iflienotype is observecl. We report on a 3-nionth-old girl,,vith intraUterine growth retarclation, craniol'acial fCatLtres, hypotonia, p irtial colobonia of iris ancl total anoinalotts pUlnionary venOLIS rettirn. Cytogenetic analysis showed the presence of a SLII)ernuinerary inarker chromosonie, iclentified by flLiorescence in SitL1 hybridization as part of chroniosoine 22, ancl conferring a p-oxinial partial trisoin ' 22q22.21, not enconil)assing the DiCeorge critical region (RPII-154H4+, TBXI-). This observation acids new inforination relevant to cat eye synclroine and I)artial trisonIN of 22q. (c) 2008 Wiley-Liss, Inc.

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