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

Abstract

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.

Authors:
 [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)
Publication Date:
OSTI Identifier:
7200154
Resource Type:
Journal Article
Journal Name:
American Journal of Human Genetics; (United States)
Additional Journal Information:
Journal Volume: 54:5; Journal ID: ISSN 0002-9297
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; HUMAN CHROMOSOME 15; CHROMOSOMAL ABERRATIONS; NERVOUS SYSTEM; CONGENITAL DISEASES; HEREDITARY DISEASES; DNA HYBRIDIZATION; GENETIC MAPPING; CHROMOSOMES; DISEASES; HUMAN CHROMOSOMES; HYBRIDIZATION; MAPPING; MUTATIONS; 550400* - Genetics

Citation Formats

Leana-Cox, J, Jenkins, L, Palmer, C G, Plattner, R, Sheppard, L, Flejter, W L, Zackowski, J, Tsien, F, and Schwartz, S. Molecular cytogenetic analysis of Inv Dup(15) chromosomes, using probes specific for the Pradar-Willi/Angelman syndrome region: Clinical implications. United States: N. p., 1994. Web.
Leana-Cox, J, Jenkins, L, Palmer, C G, Plattner, R, Sheppard, L, Flejter, W L, Zackowski, J, Tsien, F, & Schwartz, S. Molecular cytogenetic analysis of Inv Dup(15) chromosomes, using probes specific for the Pradar-Willi/Angelman syndrome region: Clinical implications. United States.
Leana-Cox, J, Jenkins, L, Palmer, C G, Plattner, R, Sheppard, L, Flejter, W L, Zackowski, J, Tsien, F, and Schwartz, S. 1994. "Molecular cytogenetic analysis of Inv Dup(15) chromosomes, using probes specific for the Pradar-Willi/Angelman syndrome region: Clinical implications". United States.
@article{osti_7200154,
title = {Molecular cytogenetic analysis of Inv Dup(15) chromosomes, using probes specific for the Pradar-Willi/Angelman syndrome region: Clinical implications},
author = {Leana-Cox, J and Jenkins, L and Palmer, C G and Plattner, R and Sheppard, L and Flejter, W L and Zackowski, J and Tsien, F and Schwartz, S},
abstractNote = {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.},
doi = {},
url = {https://www.osti.gov/biblio/7200154}, journal = {American Journal of Human Genetics; (United States)},
issn = {0002-9297},
number = ,
volume = 54:5,
place = {United States},
year = {Sun May 01 00:00:00 EDT 1994},
month = {Sun May 01 00:00:00 EDT 1994}
}