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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2011
Pynciau:
Short Report
Mynediad Ar-lein: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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