Single Nucleotide Polymorphism Array Genotyping is Equivalent to Metaphase Cytogenetics for Diagnosis of Turner Syndrome

BACKGROUND: Turner syndrome (TS) is a developmental disorder caused by partial or complete monosomy for the X chromosome in 1:2500 females. We hypothesized that single nucleotide polymorphism (SNP) array genotyping can provide superior resolution in comparison to metaphase karyotype analysis to faci...

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Hlavní autoři: Prakash, Siddharth, Guo, Dongchuan, Maslen, Cheryl L., Silberbach, Michael, Investigators, GenTAC, Milewicz, Dianna, Bondy, Carolyn A.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2013
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3883919/
https://ncbi.nlm.nih.gov/pubmed/23743550
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2013.77
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