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:	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/ http://journalarticle.ukm.my/2089/1/08MS090_4144.pdf

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author	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,
author_facet	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,
author_sort	Zarina AL,
building	UKM Institutional Repository
collection	Online Access
description	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.
first_indexed	2025-11-14T23:19:39Z
format	Article
id	oai:generic.eprints.org:2089
institution	Universiti Kebangasaan Malaysia
institution_category	Local University
language	English
last_indexed	2025-11-14T23:19:39Z
publishDate	2010
publisher	Penerbit UKM
recordtype	eprints
repository_type	Digital Repository
spelling	oai:generic.eprints.org:20892016-12-14T06:30:51Z http://journalarticle.ukm.my/2089/ 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, SSSSharifah Noor Akmal SH, 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. Penerbit UKM 2010 Article PeerReviewed application/pdf en http://journalarticle.ukm.my/2089/1/08MS090_4144.pdf 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 http://www.ppukm.ukm.my/ukmmcjournal/index.php
spellingShingle	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, Cri-du-chat syndrome: application of array CGH in diagnostic evaluation
title	Cri-du-chat syndrome: application of array CGH in diagnostic evaluation
title_full	Cri-du-chat syndrome: application of array CGH in diagnostic evaluation
title_fullStr	Cri-du-chat syndrome: application of array CGH in diagnostic evaluation
title_full_unstemmed	Cri-du-chat syndrome: application of array CGH in diagnostic evaluation
title_short	Cri-du-chat syndrome: application of array CGH in diagnostic evaluation
title_sort	cri-du-chat syndrome: application of array cgh in diagnostic evaluation
url	http://journalarticle.ukm.my/2089/ http://journalarticle.ukm.my/2089/ http://journalarticle.ukm.my/2089/1/08MS090_4144.pdf

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

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