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

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 remain...

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Bibliographic Details
Published in:American journal of human genetics 1994-05, Vol.54:5
Main Authors: Leana-Cox, J., Jenkins, L., Palmer, C.G., Plattner, R., Sheppard, L., Flejter, W.L., Zackowski, J., Tsien, F., Schwartz, S.
Format: Article
Language:English
Subjects:
BASIC BIOLOGICAL SCIENCES
CHROMOSOMAL ABERRATIONS
CHROMOSOMES
CONGENITAL DISEASES
DISEASES
DNA HYBRIDIZATION
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 15
HUMAN CHROMOSOMES
HYBRIDIZATION
MAPPING
MUTATIONS 550400 > Genetics
NERVOUS SYSTEM
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Summary: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
ISSN:0002-9297
1537-6605