Article ID Journal Published Year Pages File Type
8784708 Taiwanese Journal of Obstetrics and Gynecology 2016 4 Pages PDF
Abstract
Mosaic sSMC(8) derived from r(8)(::p12→q13.1::) can present phenotypic abnormalities. Chromosome 8q12 duplication syndrome should be included in differential diagnosis when an sSMC(8) contains 8q12.2 and CHD7.
Keywords
Related Topics
Health Sciences Medicine and Dentistry Obstetrics, Gynecology and Women's Health
Preview
Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12→q13.1::) associated with phenotypic abnormalities
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