期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 152A, 期 4, 页码 987-993出版社
WILEY-LISS
DOI: 10.1002/ajmg.a.33330
关键词
interstitial deletion 1q42; microdeletion syndrome; corpus callosum agenesis; array-CGH; developmental pathways; contiguous 1q4 syndrome
资金
- University of Basel [DMS2058]
Interstitial deletions of 1q4 are rare and present with different deletion breakpoints and variable phenotype. We report on the clinical and molecular cytogenetic findings in a girl with minor anomalies, midline defects including prenatally ascertained agenesis of the corpus callosum, epilepsy and developmental delay. A de novo 5.45 Mb deletion almost exclusively located within 1q42 was found to cause this phenotype, which shows significant overlap with the microdeletion 1q41q42 syndrome reported in a few patients except for the agenesis of the corpus callosum. However, deletions in patients with the 1q41q42 syndrome mainly extend into the 1q41 region with a region of overlap including the DISP1 gene involved in the SHH pathway, which is not part of the 1q42 deletion in our patient. We suggest that an interaction of genes involved in pathways of embryonic development rather than haploinsufficiency of single genes in the so-called critical regions is causing complex malformation syndromes due to cytogenetic microaberrations in the 1q4 region. (c) 2010 Wiley-Liss, Inc.
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