Cri-du-chat Syndrome: Application of Array CGH in Diagnostic Evaluation
- Author:
Zarina AL
;
Juriza I
;
Sharifah Azween SO
;
Azli I
;
Mohd Fadly MA
;
Zubaidah Z
;
Chia WK
;
Clarence Ko CH
;
Julia MI
;
Khairunisa K
;
Sharifah Noor Akmal SH
- Publication Type:Case Reports
- Keywords:
array comparative genomic hybridization, aCGH;
mental retardation;
cridu-chat syndrome
- From:Medicine and Health
2010;5(2):108-113
- CountryMalaysia
- Language:English
-
Abstract:
The human genome contains many submicroscopic copy number variations which includes deletions, duplications and insertions. Although conventional karyotyping
remains an important diagnostic tool in evaluating a dysmorphic patient with mental retardation, molecular diagnostic technology such as array comparative genomic
hybridization (aCGH) has proven to be sensitive and reliable in detecting these submicroscopic anomalies. A 3 month-old infant with dysmorphic facies, microcephaly
and global developmental delay was referred for genetic evaluation. Preliminary karyotyping which was confounded by the quality of metaphase spread was normal;
however, aCGH detected a 30.6Mb deletion from 5p15.33-p13.3. This case illustrates the usefulness of aCGH as an adjunctive investigative tool for detecting chromosomal
imbalances.
- Full text:P020160928407799174943.pdf
