Cri-du-chat syndrome: application of array CGH in diagnostic evaluation

Zarina AL, and Juriza I, and Sharifah Azween SO, and Azli I, and Mohd Fadly MA, and Zubaidah Z, and Chia WK, and Clarence Ko CH, and Julia MI, and Khairunisa K, and SSSSharifah Noor Akmal SH, (2010) Cri-du-chat syndrome: application of array CGH in diagnostic evaluation. Medicine & Health, 5 (2). pp. 108-113. ISSN 1823-2140


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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.

Item Type:Article
Keywords:array comparative genomic hybridization; aCGH; mental retardation; cridu-chat syndrome
Journal:Medicine & Health
ID Code:2089
Deposited By: Mr Fazli Nafiah -
Deposited On:29 Jun 2011 03:19
Last Modified:14 Dec 2016 06:30

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