Genomic analysis of partial 21q monosomies with variable phenotypes

Partial monosomy 21 was recently segregated into three regions associated with variable clinical severity. We describe 10 new patients, all examined by single nucleotide polymorphism (SNP) genotyping and G-banded karyotyping. Cohort A consisted of three patients seen in our medical genetics clinics...

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Main Authors: Roberson, Elisha D O, Wohler, Elizabeth Squibb, Hoover-Fong, Julie E, Lisi, Emily, Stevens, Eric L, Thomas, George H, Leonard, Jay, Hamosh, Ada, Pevsner, Jonathan
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2011
Teme:
Short Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3025784/
https://ncbi.nlm.nih.gov/pubmed/20823914
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.150
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