Prenatal diagnosis ofde novo partial trisomy 13q (13q22 ? qter) and partial monosomy 8p (8p23.3 ? pter) associated with holoprosencephaly, premaxillary agenesis, hexadactyly, and a hypoplastic left heart-Reference-Cited by-同舟云学术

Prenatal diagnosis ofde novo partial trisomy 13q (13q22 ? qter) and partial monosomy 8p (8p23.3 ? pter) associated with holoprosencephaly, premaxillary agenesis, hexadactyly, and a hypoplastic left heart

Published:2005 Issue:4 Volume:25 Page:334-336
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat. Diagn.

Author:

Chen Chih-Ping,Chern Schu-Rern,Hsu Chin-Yuan,Lee Chen-Chi,Lee Meng-Shan,Wang Wayseen

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Reference16 articles.

1. Two unusual chromosome aberrations ascertained by sonographic anomalies

2. Unbalanced karyotype with normal phenotype in a family with translocation (8;13) (p21;q22)

3. Trisomy 13 manifested as hypoplastic left heart and other structural abnormalities

4. Delineation of the Critical Deletion Region for Congenital Heart Defects, on Chromosome 8p23.1

5. Atrioventricular canal and 8p- syndrome

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1. A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1;Pediatric Research;2023-12-22

2. Prenatal Diagnosis of 8p23 Deletion Syndrome by Single Nucleotide Polymorphism Microarray;Journal of Fetal Medicine;2021-10-22

3. Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation;Molecular Syndromology;2020

4. Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications;Brain and Development;2015-05

5. Holoprosencephaly–polydactyly/pseudotrisomy 13;Clinical Dysmorphology;2012-10