Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 146A, Issue 14, Pages 1871-1874Publisher
WILEY-LISS
DOI: 10.1002/ajmg.a.32392
Keywords
trisomy 22; cat eye; supernumerary marker; TAPVR
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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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