[Dandy-walker syndrome and microdeletions on chromosome 7].
OBJECTIVE
To investigate genetic etiology of Dandy-Walker syndrome with array-based comparative genomic hybridization (array-CGH).


METHODS
Eight fetuses with Dandy-Walker malformations but normal karyotypes by conventional cytogenetic technique were selected. DNA samples were extracted and hybridized with Affymetrix cytogenetic 2.7 M arrays by following the manufacturer's standard protocol. The data were analyzed by special software packages.


RESULTS
By using array-CGH technique, common deletions and duplication on chromosome 7p21.3 were identified in three cases, within which were central nervous system disease associated genes NDUFA4 and PHF14.


CONCLUSIONS
Copy number variations (CNVs) of chromosome 7p21.3 region are associated with Dandy-Walker malformations which may be due to haploinsufficiency or overexpression of NDUFA4 and PHF14 genes.
Institute of Perinatal Medicine, Women and Children's Medical Center of Guangzhou, Guangzhou Medical College, Guangzhou, Guangdong 510180, P. R. China. canliao@hotmail.com
Can
C
Liao
Fang
F
Fu
Ru
R
Li
Min
M
Pan
Xin
X
Yang
Cui-xing
CX
Yi
Jian
J
Li
Dong-zhi
DZ
Li
D002897:Chromosomes, Human, Pair 7; D055028:Comparative Genomic Hybridization / Q000379:methods; D020732:Cytogenetic Analysis / Q000379:methods; D003616:Dandy-Walker Syndrome / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007621:Karyotyping / Q000379:methods; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*