Literature DB >> 22248625

Prenatal diagnosis of a fetus with a de novo trisomy 12p by array-comparative genomic hybridization (array-CGH).

Chia-Cheng Hung1, Chia-Hui Lin, Shin-Yu Lin, Jin-Chung Shin, Chien-Nan Lee, Yi-Ning Su.   

Abstract

Trisomy 12p syndrome is a rare chromosomal abnormality, which presents with facial dysmorphism, moderate to severe psychomotor retardation and generalized hypotonia. Here we present the prenatal sonographic findings investigated of a fetus in prenatal diagnosis with a de novo trisomy of 12p identified by array-comparative genomic hybridization (aCGH).
Copyright © 2011 Elsevier B.V. All rights reserved.

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Year:  2012        PMID: 22248625     DOI: 10.1016/j.gene.2011.12.050

Source DB:  PubMed          Journal:  Gene        ISSN: 0378-1119            Impact factor:   3.688


  3 in total

1.  A de novo chromosomal abnormality in Cri du Chat syndrome.

Authors:  Shunchang C Sun; Fuwei W Luo; Zhiming M Zhou; Yunsheng S Peng; Huiwen W Song
Journal:  Indian J Pediatr       Date:  2013-07-31       Impact factor: 1.967

2.  Prevalence of chromosomal abnormalities identified by copy number variation sequencing in high-risk pregnancies, spontaneous abortions, and suspected genetic disorders.

Authors:  Rui Zhang; Xiangbin Chen; Dong Wang; Xuan Chen; Chao Wang; Yuhong Zhang; Mengnan Xu; Jingcui Yu
Journal:  J Int Med Res       Date:  2019-02-07       Impact factor: 1.671

3.  Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay.

Authors:  Jakeline Santos Oliveira; Tatiana Mozer Joaquim; Rosana Aparecida Bicudo da Silva; Deise Helena de Souza; Lúcia Regina Martelli; Danilo Moretti-Ferreira
Journal:  Genet Mol Biol       Date:  2020-02-10       Impact factor: 1.771

  3 in total

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