Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 2q (2q31.1-q32.1) encompassing HOXD13 , ZNF385B and ZNF804A associated with syndactyly and increased first-trimester nuchal translucency-Reference-Cited by-同舟云学术

Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 2q (2q31.1-q32.1) encompassing HOXD13 , ZNF385B and ZNF804A associated with syndactyly and increased first-trimester nuchal translucency

Published:2017-06 Issue:3 Volume:56 Page:398-401
ISSN:1028-4559
Container-title:Taiwanese Journal of Obstetrics and Gynecology
language:en
Short-container-title:Taiwanese Journal of Obstetrics and Gynecology

Author:

Chen Chih-Ping,Lin Chen-Ju,Chen Yen-Ni,Chern Schu-Rern,Chen Shin-Wen,Lai Shih-Ting,Wu Peih-Shan,Chen Li-Feng,Wang Wayseen

Publisher

Elsevier BV

Subject

Obstetrics and Gynaecology

Reference24 articles.

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4. The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment;Cocchella;Am J Med Genet B Neuropsychiatr Genet,2010

5. Critical region in 2q31.2q32.3 deletion syndrome: report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region;Ferreira;Mol Cytogenet,2012

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1. Rapid detection of maternal origin of trisomy 18 by quantitative fluorescent polymerase chain reaction in a fetus associated with increased nuchal translucency thickness and omphalocele on first-trimester prenatal ultrasound;Taiwanese Journal of Obstetrics and Gynecology;2024-03

2. Intrahepatic Cholestasis, Refractory Epilepsy, Skeletal Dysplasia, Endocrine Failure, and Dysmorphic Features in a Child With a Monoallelic 2q24-32.2 Deletion Encompassing ABCB11;Pediatric and Developmental Pathology;2021-08-24

3. Genetic variants of ZNF385B and COMT are associated with autism spectrum disorder in the Bangladeshi children;Meta Gene;2020-12

4. Prenatal diagnosis of partial monosomy 2q (2q37.3→qter) and partial trisomy 10q (10q24.31→qter) of paternal origin associated with increased nuchal translucency and abnormal maternal serum screening results;Taiwanese Journal of Obstetrics and Gynecology;2020-09

5. Array comparative genomic hybridization characterization of a 3.3-Mb 17p13.3-p13.2 deletion encompassing YWHAE, CRK, HIC1 and PAFAH1B1 in an 8-year-old girl with Miller-Dieker lissencephaly syndrome, congenital heart defects, growth restriction and developmental delay;Taiwanese Journal of Obstetrics and Gynecology;2018-10