Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33)

被引：37
作者：
Poot, Martin
Kroes, Hester Y.
van der Wijst, Suzanne E.
Eleveld, Marc J.
Rooms, Liesbeth
Nievelstein, Rutger A. J.
Weghuis, Daniel Olde
Vreuls, Rene C.
Hageman, Gerard
Kooy, Frank
Hochstenbach, Ron
机构：
[1] Univ Utrecht, Med Ctr, Dept Biomed Genet, NL-3508 Utrecht, Netherlands
[2] Univ Antwerp, Dept Med Genet, B-2020 Antwerp, Belgium
[3] Univ Utrecht, Med Ctr, Dept Pediat Neuroradiol, NL-3508 Utrecht, Netherlands
[4] Med Spectrum Twente, Dept Cytogenet, Enschede, Netherlands
[5] Med Spectrum Twente, Dept Pediat, Enschede, Netherlands
[6] Med Spectrum Twente, Dept Neurol, Enschede, Netherlands
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2007年 / 143A卷 / 10期
关键词：
Dandy-Walker complex; corpus callosum; mental retardation; array-CGH; MLPA; FISH; ZNF124; CGI-49;
D O I：
10.1002/ajmg.a.31690
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A 10-year-old boy with vermis hypoplasia, dilatation of the fourth ventricle, enlarged cisterna magna and aplasia of the corpus callosum, consistent with the Dandy-Walker complex (DWC), and slight facial dysmorphisms, severe motor and mental retardation is presented. By combining data obtained by karyotyping, array-CGH, FISH, and multiplex ligation-mediated probe amplification (MLPA) we identified a 5 Mb deletion of the 1q44 -> clter region resulting from a paternal t(1;20)(q44;q13.33). This smallest 1q44 deletion reported so far, enabled us to significantly narrow down the number of candidate genes for the DWC in this region. Since the ZNF124 transcription factor is strongly expressed in the fetal brain it may represent a candidate gene for the DWC at 1q44. (c) 2007 Wiley-Liss, Inc.
引用
收藏
页码：1038 / 1044
页数：7
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