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01559 am a22002413u 4500 |
| 001 |
2089 |
| 042 |
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|a dc
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|a Zarina AL,
|e author
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1 |
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|a Juriza I,
|e author
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1 |
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|a Sharifah Azween SO,
|e author
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1 |
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|a Azli I,
|e author
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| 700 |
1 |
0 |
|a Mohd Fadly MA,
|e author
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| 700 |
1 |
0 |
|a Zubaidah Z,
|e author
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| 700 |
1 |
0 |
|a Chia WK,
|e author
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| 700 |
1 |
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|a Clarence Ko CH,
|e author
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| 700 |
1 |
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|a Julia MI,
|e author
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| 700 |
1 |
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|a Khairunisa K,
|e author
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| 700 |
1 |
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|a SSSSharifah Noor Akmal SH,
|e author
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| 245 |
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|a Cri-du-chat syndrome: application of array CGH in diagnostic evaluation
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| 260 |
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|b Penerbit UKM,
|c 2010.
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| 856 |
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|z Get fulltext
|u http://journalarticle.ukm.my/2089/1/08MS090_4144.pdf
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|a 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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|a en
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