Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications. |
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| Authors: | J Leana-Cox L Jenkins C G Palmer R Plattner L Sheppard W L Flejter J Zackowski F Tsien and S Schwartz |
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| Institution: | Department of Obstetrics and Gynecology, University of Maryland School of Medicine, Baltimore. |
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| 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. |
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