期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 52, 期 6, 页码 454-457出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2009.06.003
关键词
Cleft palate; Learning disability; SATB2; Chromosome 2; Microarray
资金
- NIHR through the Manchester Biomedical Research Centre
We report a 4.5 Mb deletion of 2q33.1 in an individual with developmental delay and cleft palate. There have been various previous reports of deletions of 2q3, all with varying breakpoints and all larger than the current case. Whilst there is some variation in the phenotypes of patients with 2q3 deletions all share a commonly deleted region within 2q33.1 which includes SATB2, a gene previously shown to be associated with cleft palate. The phenotypic features of our patient are milder than those reported so far. (C) 2009 Elsevier Masson SAS. All rights reserved.
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