Literature DB >> 12576746

Prenatal diagnosis of a large centromeric heteromorphism of chromosome 12: implications for genetic counseling.

Sandra Chantot-Bastaraud1, Jean Pierre Siffroi, Nadia Berkane, Nazbanou Heim, François Herve, Serge Uzan, Eric Vendrely.   

Abstract

Chromosomal centromeric variants can be found in the course of a prenatal diagnosis. When following the discovery of fetal abnormalities at ultrasound examination, such variants may lead to some difficulties in genetic counseling. Here we describe a new heteromorphism implicating chromosome 12, found in a fetus with a suspicion of microcephaly, and we discuss its prognostic value. Copyright 2003 S. Karger AG, Basel

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Year:  2003        PMID: 12576746     DOI: 10.1159/000068071

Source DB:  PubMed          Journal:  Fetal Diagn Ther        ISSN: 1015-3837            Impact factor:   2.587


  1 in total

1.  C-banding and AgNOR-staining were still effective complementary methods to indentify chromosomal heteromorphisms and some structural abnormalities in prenatal diagnosis.

Authors:  Jian Jiang Zhu; Hong Qi; Li Rong Cai; Xiao Hui Wen; Wen Zeng; Guo Dong Tang; Yao Luo; Ran Meng; Xue Qun Mao; Shao Qin Zhang
Journal:  Mol Cytogenet       Date:  2019-09-18       Impact factor: 2.009

  1 in total

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