NDLI: Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation.

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Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Shaffer, L. G. Ligon, A. H. Beaudet, A. L.
Description	Country affiliation: United States Author Affiliation: Ligon AH ( Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.)
Abstract	Many microdeletion and contiguous gene-deletion syndromes include mental retardation as a clinical feature. We have developed MultiFISH, a FISH assay using several probes to simultaneously screen for multiple microdeletion syndromes in patients who present with unexplained devleopmental delay and/or mental retardation. This screening tool can be used to determine whether a particular microdeletion syndrome is involved in the etiology of these clinical phenotypes. In this pilot study we combined probes for the commonly deleted regions of Prader-Willi, Angelman, Williams, Smith-Magenis, and DiGeorge/velocardiofacial syndromes in a single hybridization. The probes were differentially labeled, allowing multicolor detection, and 200 individual samples were screened in a blinded fashion. For all patients found by MultiFISH to have deletions, the deletions were originally identified and/or later confirmed by use of single-probe FISH analysis in our diagnostic cytogenetics laboratory. One patient, who was referred for developmental delay and was shown to have a normal G-banded karyotype, was identified by MultiFISH as having a micro-deletion at the DiGeorge/velocardiofacial commonly deleted region. Forty-six of the 200 total samples were tested for microdeletions by use of single FISH probes in the diagnostic laboratory. Ten of these cases were found to have deletions, and all deletions were subsequently detected by use of MultiFISH screen performed in a blinded fashion. Additionally, for all 200 patients tested by use of MultiFISH, no false-positive deletion results were observed. We demonstrate the ability of this technique to scan for and to identify microdeletions in a proportion of patients whose routine karyotype appears normal yet who are mentally retarded and/or developmentally delayed.
ISSN	00029297
e-ISSN	15376605
Journal	The American Journal of Human Genetics
Issue Number	1
Volume Number	61
Language	English
Publisher	Cell Press (on behalf of American Society of Human Genetics)
Publisher Date	1997-07-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Developmental Disabilities Diagnosis Genetics Gene Deletion In Situ Hybridization, Fluorescence Intellectual Disability Child, Preschool Sensitivity And Specificity Syndrome Discipline Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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