Prenatal diagnosis of a familial 5p14.3-p14.1 deletion encompassing CDH18, CDH12, PMCHL1, PRDM9 and CDH10 in a fetus with congenital heart disease on prenatal ultrasound

Author:

Chen Chih-Ping,Chang Shu-Yuan,Lin Chen-Ju,Chern Schu-Rern,Wu Peih-Shan,Chen Shin-Wen,Lai Shih-Ting,Chuang Tzu-Yun,Chen Wen-Lin,Yang Chien-Wen,Wang Wayseen

Funder

Ministry of Science and Technology

MacKay Memorial Hospital, Taipei

Publisher

Elsevier BV

Subject

Obstetrics and Gynecology

Reference18 articles.

1. High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization;Zhang;Am J Hum Genet,2005

2. A fine structure physical map of the short arm of chromosome 5;Overhauser;Am J Hum Genet,1986

3. Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: further confirmation;Hand;Prenat Diagn,2000

4. 5p14 deletion associated with microcephaly and seizures;Johnson;J Med Genet,2000

5. DECIPHER database: Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources. Available at: http://decipher.sanger.ac.uk/. [Accessed 27 October 2017 ].

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