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[Cytogenetic and molecular genetic study of a case with 8p inverted duplication deletion syndrome].

Authors
Type
Published Article
Journal
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Publication Date
Volume
27
Issue
4
Pages
361–366
Identifiers
DOI: 10.3760/cma.j.issn.1003-9406.2010.04.001
PMID: 20677137
Source
Medline
License
Unknown

Abstract

This is a case of classic inv dup del(8p) syndrome, which is characterized by severe mental retardation, brain malformation and specific facial dysmorphism, and is induced by non-allelic homologous recombination (NAHR) between the OR genes on 8p23.1. Prenatal diagnosis should be performed to monitor the recurrent risk of inv dup del(8p), as well as the other three harmful consequences resulted from the same NAHR mechanism. To the best of our knowledge, this is the first case of inverted duplicated 8p syndrome identified in Mainland China.

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