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.
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.
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.
Chih-Ping
CP
Chen
Chen-Ju
CJ
Lin
Yi-Yung
YY
Chen
Liang-Kai
LK
Wang
Schu-Rern
SR
Chern
Peih-Shan
PS
Wu
Jun-Wei
JW
Su
Li-Feng
LF
Chen
Dai-Dyi
DD
Town
Chen-Wen
CW
Pan
Wayseen
W
Wang
D000328:Adult; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002893:Chromosomes, Human, Pair 3; D002899:Chromosomes, Human, Pair 9; D062445:Claudin-1 / Q000235:genetics; D057167:Claudins / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000379:methods; D005145:Face / Q000002:abnormalities / Q000196:embryology; D005260:Female; D006345:Heart Septal Defects, Ventricular / Q000235:genetics*; D006554:Hernia, Umbilical / Q000235:genetics*; D011495:Histone-Lysine N-Methyltransferase / Q000235:genetics; D006801:Humans; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D036223:Receptor, EphB3 / Q000235:genetics; D014314:Trisomy
C568108:CLDN1 protein, human; D062445:Claudin-1; D057167:Claudins; C502010:claudin 16; C455847:EHMT1 protein, human; D011495:Histone-Lysine N-Methyltransferase; D036223:Receptor, EphB3
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