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:
-
- 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)
- 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}
}
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