Genomic analysis of partial 21q monosomies with variable phenotypes-Reference-Cited by-同舟云学术

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Genomic analysis of partial 21q monosomies with variable phenotypes

Published:2010-09-08 Issue:2 Volume:19 Page:235-238
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2010150.pdf

Reference11 articles.

1. Lejeune J, Berger R, Rethore MO et al: Partial monosomy for a small acrocentric chromosome. C R Hebd Seances Acad Sci 1964; 259: 4187–4190.

2. Lyle R, Béna F, Gagos S et al: Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet 2009; 17: 454–466.

3. Firth HV, Richards SM, Bevan AP et al: DECIPHER: database of chromosomal imbalance and phenotype in humans using ensembl resources. Am J Hum Genet 2009; 84: 524–533.

4. Ting JC, Roberson EDO, Miller ND et al: (2007) Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio. Hum Mutation 2007; 28: 1225–1235.

5. Yao G, Chen X-N, Flores-Sarnet L et al: Deletion of chromosome 21 disturbs human brain morphogenesis. Genetics in Medicine 2006; 8: 1–7.

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