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Molecular cytogenetic analysis of Inv Dup(15) chromosomes, using probes specific for the Pradar-Willi/Angelman syndrome region: Clinical implications

Journal Article · · American Journal of Human Genetics; (United States)
OSTI ID:7200154
 [1];  [2]; ;  [3];  [4];  [5];  [6];  [7];  [8]
  1. Univ. of Maryland School of Medicine, Baltimore, MD (United States)
  2. Kaiser Permanente Medical Group, San Jose, CA (United States)
  3. Indiana School of Medicine, Indianapolis, IN (United States)
  4. Palo Verde Laboratory, Inc., Chandler, AZ (United States)
  5. Univ. of Michigan, Ann Arbor, MI (United States)
  6. Univ. of Florida Health Science Center, Gainsville, FL (United States)
  7. Tulane Univ. School of Medicine, New Orleans, LA (United States)
  8. Case Western Reserve Univ., Cleveland, OH (United States)
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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), Journal Name: American Journal of Human Genetics; (United States) Vol. 54:5; ISSN AJHGAG; ISSN 0002-9297
Country of Publication:
United States
Language:
English

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Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
CHROMOSOMAL ABERRATIONS
CHROMOSOMES
CONGENITAL DISEASES
DISEASES
DNA HYBRIDIZATION
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 15
HUMAN CHROMOSOMES
HYBRIDIZATION
MAPPING
MUTATIONS
NERVOUS SYSTEM