Wang T H, Johnston K, Hsieh C L, Dennery P A
Department of Pediatrics, Stanford University School of Medicine, California.
Am J Med Genet. 1994 Feb 15;49(4):399-401. doi: 10.1002/ajmg.1320490410.
We present a premature newborn boy with multiple congenital anomalies, including craniofacial anomalies, syndactyly, cardiac defects, and a horseshoe kidney associated with terminal deletion of 2q. The infant's karyotype was 46,XY,del(2)(q37). Clinical, cytogenetic, and autopsy findings are presented in this report. Clinical manifestations in this infant are compared with those four other known patients with terminal deletion of chromosome 2.
我们报告了一名患有多种先天性异常的早产男婴，这些异常包括颅面畸形、并指畸形、心脏缺陷以及与2号染色体末端缺失相关的马蹄肾。婴儿的核型为46,XY,del(2)(q37)。本报告展示了临床、细胞遗传学和尸检结果。将该婴儿的临床表现与其他四名已知的2号染色体末端缺失患者的临床表现进行了比较。
