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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2011
Témata:
Short Report
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky