Angeloni D, Lindor N M, Pack S, Latif F, Wei M H, Lerman M I
Laboratory of Immunobiology, National Cancer Institute, Frederick Cancer Research and Development Center, Frederick, Maryland 21702-1201, USA.
Am J Med Genet. 1999 Oct 29;86(5):482-5. doi: 10.1002/(sici)1096-8628(19991029)86:5<482::aid-ajmg15>3.0.co;2-l.
The 3p- syndrome results from deletion of a terminal segment of the short arm of one chromosome 3 (3p25-->pter), and is characterized by multiple congenital anomalies and mental retardation. Due to its variable expression, it is assumed this disorder is a contiguous gene syndrome with an undefined number of genes contributing to the phenotype. In an effort to discover genes contributing to mental defects in 3p- syndrome, we determined whether the CALL gene, mapped to 3p26.1 and coding for a neural recognition molecule, is deleted in a boy with this disorder. We found that the break in this patient is distal to the VHL gene, removing D3S18 and the CALL loci. The deletion of one copy of the CALL gene might be responsible for mental defects in patients with 3p- syndrome. Am. J. Med. Genet. 86:482-485, 1999. Published 1999 Wiley-Liss, Inc.
3p-综合征是由于一条3号染色体短臂末端片段（3p25→pter）缺失所致，其特征为多种先天性异常和智力发育迟缓。由于其表现多样，推测该疾病是一种连续基因综合征，有数量不确定的基因导致了这种表型。为了发现导致3p-综合征智力缺陷的基因，我们确定了定位在3p26.1且编码一种神经识别分子的CALL基因在一名患有该疾病的男孩中是否缺失。我们发现该患者的断裂点在VHL基因的远端，导致D3S18和CALL基因座缺失。CALL基因一个拷贝的缺失可能是3p-综合征患者智力缺陷的原因。《美国医学遗传学杂志》86:482 - 485，1999年。1999年由威利 - 利斯公司出版。
