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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Penerbit UKM
2010
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| Online Access: | http://journalarticle.ukm.my/2089/ http://journalarticle.ukm.my/2089/ http://journalarticle.ukm.my/2089/1/08MS090_4144.pdf |
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ukm-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 |
| repository_type |
Digital Repository |
| institution_category |
Local University |
| institution |
Universiti Kebangasaan Malaysia |
| building |
UKM Institutional Repository |
| collection |
Online Access |
| language |
English |
| 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. |
| format |
Article |
| 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, |
| 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 |
| 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, |
| title |
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_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_sort |
cri-du-chat syndrome: application of array cgh in
diagnostic evaluation |
| publisher |
Penerbit UKM |
| publishDate |
2010 |
| url |
http://journalarticle.ukm.my/2089/ http://journalarticle.ukm.my/2089/ http://journalarticle.ukm.my/2089/1/08MS090_4144.pdf |
| first_indexed |
2023-09-18T19:35:10Z |
| last_indexed |
2023-09-18T19:35:10Z |
| _version_ |
1777405222686031872 |