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Article

Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.

American journal of human genetics - 1 May 1994

Leana-Cox J, Jenkins L, Palmer C G, Plattner R, Sheppard L, Flejter W L, Zackowski J, Tsien F, Schwartz S

Abstract excerpt

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...

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PMID: 8178816
PMCID: PMC1918252

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