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

• Main Authors: Zarina AL (Author), Juriza I (Author), Sharifah Azween SO (Author), Azli I (Author), Mohd Fadly MA (Author), Zubaidah Z (Author), Chia WK (Author), Clarence Ko CH (Author), Julia MI (Author), Khairunisa K (Author), SSSSharifah Noor Akmal SH (Author)
• Format: Article
• Language: English
• Published: Penerbit UKM, 2010.
• Online Access: Get fulltext

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.