Abstract | BACKGROUND: Microdeletion syndromes not detectable by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). Therefore, it is essential to ensure that patients with MR are screened for these microdeletion syndromes. Mental retardation syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new technique for measuring sequence dosages that allows for the detection of copy number changes of several microdeletion syndromes ( 1p36 deletion syndrome, Williams syndrome, Smith-Magenis syndrome, Miller-Dieker syndrome, DiGeorge syndrome, Prader-Willi/ Angelman syndrome, Alagille syndrome, Saethre-Chotzen syndrome, and Sotos syndrome) to be processed simultaneously, thus significantly reducing the amount of laboratory work. METHODS: RESULTS: The results of MLPA analysis showed a complete concordance with FISH in 12 patients with microdeletion syndromes. CONCLUSIONS: On the basis of these results, we conclude that MLPA is an accurate, reliable, and cost-effective alternative to FISH in the screening for microdeletion syndromes.
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Authors | Eun Hae Cho, Bo Ya Na Park, Jung Hee Cho, You Sun Kang |
Journal | The Korean journal of laboratory medicine
(Korean J Lab Med)
Vol. 29
Issue 1
Pg. 71-6
(Feb 2009)
ISSN: 1598-6535 [Print] Korea (South) |
PMID | 19262082
(Publication Type: Comparative Study, Journal Article)
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Topics |
- Chromosome Deletion
- Classical Lissencephalies and Subcortical Band Heterotopias
(genetics)
- DiGeorge Syndrome
(genetics)
- Humans
- In Situ Hybridization, Fluorescence
(methods)
- Intellectual Disability
(diagnosis, genetics)
- Laboratories, Hospital
- Nucleic Acid Amplification Techniques
(methods)
- Prader-Willi Syndrome
(genetics)
- Williams Syndrome
(genetics)
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