1. bookVolume 18 (2015): Issue 1 (June 2015)
Journal Details
License
Format
Journal
eISSN
2199-5761
First Published
10 Oct 2007
Publication timeframe
2 times per year
Languages
English
access type Open Access

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

Published Online: 30 Dec 2015
Volume & Issue: Volume 18 (2015) - Issue 1 (June 2015)
Page range: 77 - 84
Journal Details
License
Format
Journal
eISSN
2199-5761
First Published
10 Oct 2007
Publication timeframe
2 times per year
Languages
English
Abstract

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.

Keywords

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