Dandy-walker syndrome and microdeletions on chromosome 7 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 48-51, 2012.
Article
in Chinese
| WPRIM
| ID: wpr-295535
ABSTRACT
<p><b>OBJECTIVE</b>To investigate genetic etiology of Dandy-Walker syndrome with array-based comparative genomic hybridization (array-CGH).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Chromosomes, Human, Pair 7
/
Gene Deletion
/
Cytogenetic Analysis
/
Dandy-Walker Syndrome
/
Comparative Genomic Hybridization
/
Genetics
/
Karyotyping
/
Methods
Type of study:
Diagnostic study
Limits:
Female
/
Humans
/
Male
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2012
Type:
Article
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