Preimplantation genetic diagnosis (PGD) for SHOX-related haploinsufficiency in conjunction with trisomy 21 detection by molecular analysis

PURPOSE: Development of a molecular PGD protocol for a male with an X-linked deletion in the SHOX gene region, located in the pseudoautosomal region of the X/Y chromosomes. Due to excessive recombination in this region, the deletion can be found in male offspring. METHODS: We developed a 13 marker m...

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Detalhes bibliográficos
Main Authors: Altarescu, Gheona, Reish, Orit, Renbaum, Paul, Kasterstein, Ester, Komarovsky, Dvorah, Komsky, Alisa, Bern, Orna, Strassburger, Dvorah, Levy-Lahad, Ephrat, Ron-El, Raphael
Formato: Artigo
Idioma:Inglês
Publicado em: Springer US 2010
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3082663/
https://ncbi.nlm.nih.gov/pubmed/21120598
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10815-010-9508-2
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