Cri-du-chat syndrome: application of array CGH in diagnostic evaluation
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 ar...
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| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Penerbit UKM
2010
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| Online Access: | http://journalarticle.ukm.my/2089/1/08MS090_4144.pdf http://journalarticle.ukm.my/2089/ http://www.ppukm.ukm.my/ukmmcjournal/index.php |
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| Summary: | 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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