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

• Main Authors: Zarina AL,, Juriza I,, Sharifah Azween SO,, Azli I,, Mohd Fadly MA,, Zubaidah Z,, Chia WK,, Clarence Ko CH,, Julia MI,, Khairunisa K,, SSSSharifah Noor Akmal SH,
• Format: Article
• Language: English
• Published: Penerbit UKM 2010
• Online Access: http://journalarticle.ukm.my/2089/1/08MS090_4144.pdf; http://journalarticle.ukm.my/2089/; http://www.ppukm.ukm.my/ukmmcjournal/index.php

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.