Koolen David A, Vissers Lisenka E L M, Pfundt Rolph, de Leeuw Nicole, Knight Samantha J L, Regan Regina, Kooy R Frank, Reyniers Edwin, Romano Corrado, Fichera Marco, Schinzel Albert, Baumer Alessandra, Anderlid Britt-Marie, Schoumans Jacqueline, Knoers Nine V, van Kessel Ad Geurts, Sistermans Erik A, Veltman Joris A, Brunner Han G, de Vries Bert B A
Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.
Nat Genet. 2006 Sep;38(9):999-1001. doi: 10.1038/ng1853. Epub 2006 Aug 13.
Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three interstitial, overlapping 17q21.31 microdeletions in a cohort of 1,200 mentally retarded individuals associated with a clearly recognizable clinical phenotype of mental retardation, hypotonia and a characteristic face. The deletions encompass the MAPT and CRHR1 genes and are associated with a common inversion polymorphism.
亚微观基因组拷贝数变化直到最近才被确认为智力迟钝的一个重要原因。我们描述了在1200名智力迟钝个体中检测到三个相互重叠的17q21.31间质性微缺失，这些个体具有明显可识别的智力迟钝、肌张力减退和特征性面容的临床表型。这些缺失包含MAPT和CRHR1基因，并与一种常见的倒位多态性相关。
