The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies.

doi:10.1073/pnas.0813248106

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Article

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies.

Proceedings of the National Academy of Sciences of the United States of America - 21 Jul 2009

Korbel Jan O, Tirosh-Wagner Tal, Urban Alexander Eckehart, Chen Xiao-Ning, Kasowski Maya, Dai Li, Grubert Fabian, Erdman Chandra, Gao Michael C, Lange Ken, Sobel Eric M, Barlow Gillian M, Aylsworth Arthur S, Carpenter Nancy J, Clark Robin Dawn, Cohen Monika Y, Doran Eric, Falik-Zaccai Tzipora, Lewin Susan O, Lott Ira T, McGillivray Barbara C, Moeschler John B, Pettenati Mark J, Pueschel Siegfried M, Rao Kathleen W, Shaffer Lisa G, Shohat Mordechai, Van Riper Alexander J, Warburton Dorothy, Weissman Sherman, Gerstein Mark B, Snyder Michael, Korenberg Julie R

Abstract excerpt

Down syndrome (DS), or trisomy 21, is a common disorder associated with several complex clinical phenotypes. Although several hypotheses have been put forward, it is unclear as to whether particular gene loci on chromosome 21 (HSA21) are sufficient to cause DS and its associated features. Here we present a high-resolution genetic map of DS phenotypes based on an analysis of 30 subjects carrying rare segmental...

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PMID: 19597142
DOI: 10.1073/pnas.0813248106
PMCID: PMC2709665

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