期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 146A, 期 22, 页码 2944-2949出版社
WILEY
DOI: 10.1002/ajmg.a.32473
关键词
ichthyosis; chromosome X; Dandy-Walker; mental retardation; deletion; SNP array; cortical heteroropia
资金
- University Hospital Maastricht
- GROW research institute for oncology and developmental biology
- Netherlands Organization for Scientific Research ZONMW [907-00-202]
- Barrier Therapeutics NV
Microdeletions of Xp22.3 are associated with contiguous gene syndromes, the extend and nature of which depend on the genes encompassed by the deletion. Common symptoms include ichthyosis, mental retardation and hypogonadism. We report on a boy with short stature, ichthyosis, severe mental retardation, cortical heterotopias and Dandy-Walker malformation. The latter two abnormalities have so far not been reported in terminal Xp deletions. MLPA showed deletion of SHOX and subsequent analysis using FISH and SNP-arrays revealed that the patient had an 8.41 Mb distal deletion of chromosome region Xp22.31 -> Xpter. This interval contains several genes whose deletion can partly explain our patient's phenotype. His cortical heterotopias and DWM suggest that a gene involved in brain development may be in the deleted interval, but we found no immediately obvious candidates. Interestingly, further analysis of the family revealed that the patient had inherited his deletion from his mother, who has a mos 46,X,del(X)(p22)/45,X/46, XX karyotype. (C) 2005 Wiley-Liss, Inc.
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