期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 52, 期 4, 页码 265-268出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2008.11.005
关键词
Cleft lip; Cortical blindness; Developmental delay; Microarray; Microdeletion
资金
- NIGMS NIH HHS [5-T32-GM-008638-11, R01 GM081519, GM081519, R01 GM081519-01, T32 GM008638] Funding Source: Medline
We report a 3.1-Mb de novo deletion of 3p21.31 in a 3.5-year-old female with cortical blindness, cleft lip, CNS abnormalities, and gross developmental delays. Examination of the region showed similar to 80 genes to be involved in the deletion. Functional analysis of the deleted genes suggests that several of them may be important in normal neuronal maturation and function. Thus, haploinsufficiency of one or more of these genes could potentially contribute to the observed phenotype. Our patient does not have clinical features that overlap completely with either proximal or distal 3p, deletions, suggesting that the deletion seen in our patient leads to a distinct clinical phenotype not described previously. (C) 2009 Elsevier Masson SAS. All rights reserved.
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