Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss

被引:39
作者
Nagamani, Sandesh Chakravarthy Sreenath
Erez, Ayelet
Eng, Christine
Ou, Zhishuo
Chinault, Craig
Workman, Laura [2 ]
Coldwell, James [3 ]
Stankiewicz, Pawel
Patel, Ankita
Lupski, James R. [4 ,5 ]
Cheung, Sau Wai [1 ]
机构
[1] Baylor Coll Med, Cytogenet Lab, Dept Mol & Human Genet, Houston, TX 77030 USA
[2] Sutter Med Ctr, Sacramento, CA USA
[3] Childrens Med Ctr, Tulsa, OK USA
[4] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA
[5] Texas Childrens Hosp, Houston, TX 77030 USA
关键词
6q deletion; hearing loss; microcephaly; developmental delay; agenesis of the corpus callosum; array-CGH; LONG ARM DELETION; 6Q DELETIONS; CHROMOSOME-6; MALFORMATIONS; REGION; HYBRIDIZATION; BREAKPOINTS; MICROARRAY; MONOSOMY; LOCUS;
D O I
10.1038/ejhg.2008.220
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Interstitial deletions of 6q are rare. We report a detailed clinical and molecular characterization of four patients with interstitial deletion involving 6q25. All of our patients presented with microcephaly, developmental delay, dysmorphic features and hearing loss, whereas two of them had agenesis of the corpus callosum. We determined the size, extent and genomic content of the deletions using high-density array-comparative genomic hybridization (a-CGH), and found that a common segment spanning 3.52 Mb within the 6q25.2-q25.3 region was deleted in all four cases. We hypothesize that a subset of genes in the commonly deleted region are dosage sensitive and that haploinsufficieny of these genes impairs normal development of the brain and hearing.
引用
收藏
页码:573 / 581
页数:9
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