CONGENITAL HYDROCEPHALUS AND HEMIVERTEBRAE
ASSOCIATED WITH DE NOVO PARTIAL MONOSOMY
6q (6q25.3→qter)
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 X-J,
*Corresponding Author: Xin-Jie Chen, Ph.D., Key Laboratory of Reproductive Medicine of Guangdong Province,
Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and
Genetics of Guangdong Higher Education Institutes, The Third Affiliated Hospital of Guangzhou Medical University,
Duobao Road 63, Guangzhou, 510150, Guangdong, People’s Republic of China. Tel: +86-20-81292292.
Fax: +86-20-81292013. E-mail: lucychen23@aliyun.com
page: 77
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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.
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