1.Cri-du-chat Syndrome: Application of Array CGH in Diagnostic Evaluation
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
Medicine and Health 2010;5(2):108-113
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.
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