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Trisomy 3 mosaicism in a 5-year-old boy with multiple anomalies: A very rare case.
- Source :
- American Journal of Medical Genetics. Part A; Jun2016, Vol. 170A Issue 6, p1590-1594, 5p
- Publication Year :
- 2016
-
Abstract
- Trisomy 3 mosaicism in live birth is exceedingly rare. In this study, we report a 5-year-old boy with trisomy 3 mosaicism who exhibits skeletal anomalies, atypical form of ectodermal dysplasias, refractory diarrhea, and normal intelligence. Fluorescence in situ hybridization and microsatellite marker analyses confirmed the existence of trisomy 3 mosaicism and suggested that the parental origin of the additional chromosome 3 in the trisomic cells was maternal. This report further delineated the trisomy 3 mosaicism in live births. The authors propose that both common phenotypes and phenotypic diversity exist on cases with trisomy 3 mosaicism. © 2016 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 15524825
- Volume :
- 170A
- Issue :
- 6
- Database :
- Complementary Index
- Journal :
- American Journal of Medical Genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 115400733
- Full Text :
- https://doi.org/10.1002/ajmg.a.37618