Molecular cytogenetic analysis of Inv Dup(15) chromosomes, using probes specific for the Pradar-Willi/Angelman syndrome region: Clinical implications
- Univ. of Maryland School of Medicine, Baltimore, MD (United States)
- Kaiser Permanente Medical Group, San Jose, CA (United States)
- Indiana School of Medicine, Indianapolis, IN (United States)
- Palo Verde Laboratory, Inc., Chandler, AZ (United States)
- Univ. of Michigan, Ann Arbor, MI (United States)
- Univ. of Florida Health Science Center, Gainsville, FL (United States)
- Tulane Univ. School of Medicine, New Orleans, LA (United States)
- Case Western Reserve Univ., Cleveland, OH (United States)
Twenty-seven cases of inverted duplications of chromosome 15 (inv dup[15]) were investigated by FISH with two DNA probes specific for the Prader-Willi syndrome/Angelman syndrome (PWS/AS) region on proximal 15q. Sixteen of the marker chromosomes displayed two copies of each probe, while in the remaining 11 markers no hybridization was observed. A significant association was found between the presence of this region and an abnormal phenotype (P<.01). This is the largest study to date of inv dup(15) chromosomes, that uses molecular cytogenetic methods and is the first to report a significant association between the presence of a specific chromosomal region in such markers and an abnormal phenotype. 30 refs., 1 fig., 4 tabs.
- OSTI ID:
- 7200154
- Journal Information:
- American Journal of Human Genetics; (United States), Vol. 54:5; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
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