De Novo nonreciprocal translocation 1;8 confirmed by fluorescent in situ hybridization
Journal Article
·
· American Journal of Medical Genetics
- East Carolina Univ. School of Medicine, Greenville, NC (United States); and others
Constitutional nonreciprocal translocations are extremely rare, and even their existence is controversial. We report on a newborn infant with a de novo nonreciprocal translocation between chromosomes 1 and 8 resulting in 1q42.3 deletion syndrome. Fluorescent in situ hybridization with whole chromosome paints confirmed the conventional cytogenetic diagnosis. 3 refs., 2 figs., 1 tab.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 102892
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 57; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
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