Trisomy 22 confirmed by fluorescent in situ hybridization
โ 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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โฆ 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.
๐ SIMILAR VOLUMES
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