Taysi K, Strauss A W, Yang V, Padmalatha C, Marshall R E
Ann Genet. 1982;25(3):141-4.
This communication describes the fourth known patient with a terminal long arm deletion of chromosome 10. The karyotype is : 46,XX,del(10)(q26). The clinical findings in the patient included intrauterine growth retardation, microcephaly, truncus arteriosus type 1, respiratory distress and craniofacial dysmorphism. Although review of the limited number of patients with a similar deletion reveals several common features, there is yet insufficient evidence to define a distinct 10q--syndrome.
本报告描述了第四例已知的10号染色体长臂末端缺失患者。其核型为:46,XX,del(10)(q26)。该患者的临床症状包括宫内生长迟缓、小头畸形、I型永存动脉干、呼吸窘迫和颅面部畸形。尽管对数量有限的具有类似缺失的患者进行回顾显示出一些共同特征,但仍缺乏足够证据来定义一种独特的10q-综合征。