Congenital Hydrocephalus and Hemivertebrae Associated With De NOVO Partial Monosomy 6q (6q25.3→qter)

• Published in: Balkan journal of medical genetics 2015-06, Vol.18 (1), p.77-84
• Main Authors: Li, Y, Choy, K-W, Xie, H-N, Chen, M, He, W-Y, Gong, Y-F, Liu, H-Y, Song, Y-Q, Xian, Y-X, Sun, X-F, Chen, Xin-Jie
• Format: Article
• Language: English
• Subjects: 6q Terminal deletion; Genotype; Hemivertebrae; Hydrocephalus; Original; Phenotype
• ISSN: 1311-0160; 2199-5761; 1311-0160
• DOI: 10.1515/bjmg-2015-0009

This study was conducted to describe a prenatal case of congenital hydrocephalus and hemivertebrae with a 6q terminal deletion and to investigate the possible correlation between the genotype and phenotype of the proband. We performed an array-based comparative genomic hybridization (aCGH) analysis on a fetus diagnosed with congenital hydrocephalus and hemivertebrae. The deletion, spanning 10.06 Mb from 6q25.3 to 6qter, was detected in this fetus. The results of aCGH, karyotype and fluorescent in situ hybridization (FISH) analyses in the healthy parents were normal, which confirmed that the proband’s copy- number variant (CNV) was de novo. This deleted region encompassed 97 genes, including 28 OMIM genes. We discussed four genes (TBP, PSMB1, QKI and Pacrg) that may be responsible for hydrocephalus while the T gene may have a role in hemivertebra. We speculate that five genes in the 6q terminal deletion region were potentially associated with hemivertebrae and hydrocephalus in the proband.