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Article

Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.

American journal of human genetics - 1 Dec 1997

Browne C E, Dennis N R, Maher E, Long F L, Nicholson J C, Sillibourne J, Barber J C

Abstract excerpt

We present the cytogenetic, molecular cytogenetic, and molecular genetic results on 20 unrelated patients with an interstitial duplication of the proximal long arm of chromosome 15. Multiple probes showed that the Prader-Willi/Angelman critical region (PWACR) was included in the duplication in 4/20 patients, each ascertained with developmental delay. The duplication was also found in two affected but not in three...

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Identifiers

PMID: 9399882
DOI: 10.1086/301624
PMCID: PMC1716086

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