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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Dades bibliogràfiques
Autors principals: 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
Idioma:Inglês
Publicat: Nature Publishing Group 2011
Matèries:
Short Report
Accés en línia: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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