Modeling the monosomy for the telomeric part of human chromosome 21 reveals haploinsufficient genes modulating the inflammatory and airway responses

Author:

Besson Vanessa,Brault Véronique,Duchon Arnaud,Togbe Dieudonné,Bizot Jean-Charles,Quesniaux Valérie F.J.,Ryffel Bernard,Hérault Yann

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Reference77 articles.

1. Deletion of chromosome 21 disturbs human brain morphogenesis;Yao;Genet. Med.,2006

2. Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and molecular studies;Ehling;Am. J. Med. Genet. A,2004

3. Molecular mapping of 21 features associated with partial Monosomy 21: involvement of the APP–SOD1 region;Chettouh;Am. J. Hum. Genet.,1995

4. De novo satellite 21q associated with corpus callosum dysgenesis, colpocephaly, a concealed penis, congenital heart defects, and developmental delay;Chen;Genet. Couns.,2004

5. No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in ‘mirror’ duplications of chromosome 21;Pangalos;Am. J. Hum. Genet.,1992

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