3q26.31-q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: prenatal diagnosis and aCGH characterization

Chih-Ping Chen; Chen-Ju Lin; Yi-Yung Chen; Liang-Kai Wang; Schu-Rern Chern; Peih-Shan Wu; Jun-Wei Su; Li-Feng Chen; Dai-Dyi Town; Chen-Wen Pan; Wayseen Wang

doi:10.1016/j.gene.2013.09.025

3q26.31-q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: prenatal diagnosis and aCGH characterization

Gene. 2013 Dec 10;532(1):80-6. doi: 10.1016/j.gene.2013.09.025. Epub 2013 Sep 18.

Authors

Chih-Ping Chen¹, Chen-Ju Lin, Yi-Yung Chen, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Li-Feng Chen, Dai-Dyi Town, Chen-Wen Pan, Wayseen Wang

Affiliation

¹ Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.

PMID: 24055486
DOI: 10.1016/j.gene.2013.09.025

Abstract

We present prenatal diagnosis and array comparative genomic hybridization characterization of 3q26.31-q29 duplication and 9q34.3 microdeletion in a fetus with omphalocele, ventricular septal defect, increased nuchal translucency, abnormal first-trimester maternal screening and facial dysmorphism with distinct features of the 3q duplication syndrome and Kleefstra syndrome. The 26.61-Mb duplication of 3q26.31-q29 encompasses EPHB3, CLDN1 and CLDN16, and the 972-kb deletion of 9q34.3 encompasses EHMT1. We review the literature of partial trisomy 3q associated with omphalocele and discuss the genotype-phenotype correlation in this case.

Keywords: 3q duplication; 9q deletion; ASD; CLDN1; CLDN16; EPHB3; MoM; NT; OMIM; Omphalocele; Online Mendelian Inheritance in Man; PAPP-A; QF-PCR; STRs; VSD; aCGH; array comparative genomic hybridization; atrial septal defect; de novo; del; deletion; der; derivative chromosome; dn; dup; duplication; inv; inversion; multiples of the median; nuchal translucency; pregnancy-associated plasma protein-A; quantitative fluorescent polymerase chain reaction; short tandem repeats; t; translocation; triplication; trp; ventricular septal defect; β-hCG; β-human chorionic gonadotropin.

Publication types

Case Reports
Research Support, Non-U.S. Gov't
Review

MeSH terms

Adult
Chromosome Deletion*
Chromosome Duplication*
Chromosomes, Human, Pair 3*
Chromosomes, Human, Pair 9*
Claudin-1 / genetics
Claudins / genetics
Comparative Genomic Hybridization / methods
Face / abnormalities
Face / embryology
Female
Heart Septal Defects, Ventricular / genetics*
Hernia, Umbilical / genetics*
Histone-Lysine N-Methyltransferase / genetics
Humans
Nuchal Translucency Measurement*
Pregnancy
Pregnancy Trimester, First
Prenatal Diagnosis
Receptor, EphB3 / genetics
Trisomy

Substances

CLDN1 protein, human
Claudin-1
Claudins
claudin 16
EHMT1 protein, human
Histone-Lysine N-Methyltransferase
Receptor, EphB3

Supplementary concepts

Chromosome 3, trisomy 3q