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Trisomy 22 confirmed by fluorescent in situ hybridization

โœ Scribed by Stratton, Robert F. ;DuPont, Barbara R. ;Mattern, Vicki L. ;Young, Robert S. ;McCourt, James W. ;Moore, Charleen M.


Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
421 KB
Volume
46
Category
Article
ISSN
0148-7299

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โœฆ Synopsis


We report on a newborn girl with multiple congenital anomalies, whose G-banded chromosome analysis showed complete trisomy 22. Chromosome painting using a whole-chromosome painting probe for chromosome 22 confirmed that neither chromosome 22 was involved in a cryptic translocation.


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We present a patient with multiple anomalies and severe developmental delay. A small supernumerary ring chromosome was found in 40% of her lymphocyte cells at birth. The origin of the marker chromosome could not be determined by GTG banding, but fluorescent in situ hybridization (FISH) later identif