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Molecular and cytogenetic studies of the Prader-Willi syndrome.

Twenty-seven subjects with the Prader-Willi syndrome (PWS) were studied. Sixteen (59%) had a cytogenetic deletion involving chromosome 15q11-13. Nine were non-deletional and two patients had structural rearrangements of chromosome 15: 47,XY, + del(15)(pter----q12), var(15)(p11) and 45,XX,t(14q15q)....

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Podrobná bibliografie
Vydáno v:J Med Genet
Hlavní autoři: Trent, R J, Volpato, F, Smith, A, Lindeman, R, Wong, M K, Warne, G, Haan, E
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 1991
Témata:
On-line přístup:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017050/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1682493/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.10.649
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