Lin S P, Petty E M, Gibson L H, Inserra J, Seashore M R, Yang-Feng T L
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
Am J Med Genet. 1992 Nov 1;44(4):500-2. doi: 10.1002/ajmg.1320440424.
We describe a male twin with the smallest terminal deletion of chromosome 2q [46,XY,del(2)(q37.2)] reported to date. His deletion was confirmed by a fluorescence in situ hybridization study using a probe from the deleted region. Only 3 other cases with larger deletions including 2q37.2-->qter have been reported. Clinical manifestations our patient has in common with them include frontal bossing, long eyelashes, micrognathia, infantile hypotonia and developmental delay. His twin brother is physically and developmentally normal and chromosomes of the parents were normal. The mildness of the phenotype in this patient supports less stringent criteria for cytogenetic study of developmentally impaired individuals.
我们描述了一名男性双胞胎，其具有迄今为止报道的2号染色体q末端最小缺失[46,XY,del(2)(q37.2)]。使用来自缺失区域的探针进行的荧光原位杂交研究证实了他的缺失。仅报道了另外3例具有更大缺失（包括2q37.2→qter）的病例。我们的患者与他们共有的临床表现包括额部突出、长睫毛、小颌畸形、婴儿期肌张力减退和发育迟缓。他的双胞胎兄弟身体和发育正常，父母的染色体也正常。该患者表型的轻度性支持对发育受损个体进行细胞遗传学研究时采用不太严格的标准。
