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- Title
An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient.
- Authors
Auber, B.; Burfeind, P.; Thiels, C.; Alsat, E. A.; Shoukier, M.; Liehr, T.; Nelle, H.; Bartels, I.; Salinas-Riester, G.; Laccone, F.
- Abstract
The article discusses the study on an unbalanced translocation that results in Xq28 duplication causes a Rett syndrome-like phenotype in a female patient. It cites that the Xq28 region comprises 180 genes, in which 28 are associated with phenotype including the MECP2 genes that is associated with the Rett syndrome. It states that all female patients with a functional Xq28 duplication had moderate to severe developmental disabilities, major hypotonia, microcephaly, and severe feeding problems.
- Subjects
CHROMOSOMAL translocation; RETT syndrome; PHENOTYPES; DEVELOPMENTAL disabilities; MICROCEPHALY; GENES
- Publication
Clinical Genetics, 2010, Vol 77, Issue 6, p593
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/j.1399-0004.2009.01363.x