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Article

Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2014

Prakash Siddharth, Guo Dongchuan, Maslen Cheryl L, Silberbach Michael, Milewicz Dianna, Bondy Carolyn A

Abstract excerpt

PURPOSE: Turner syndrome is a developmental disorder caused by partial or complete monosomy for the X chromosome in 1 in 2,500 females. We hypothesized that single-nucleotide polymorphism (SNP) array genotyping could provide superior resolution in comparison to metaphase karyotype analysis to facilitate genotype-phenotype correlations. METHODS: We genotyped 187 Turner syndrome patients with 733,000 SNP marker...

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Share to Chromosomes, Human, X
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23743550
DOI: 10.1038/gim.2013.77
PMCID: PMC3883919

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