两名患有3号染色体短臂末端缺失（del(3)(p25pter)）的婴儿及既往报道病例回顾
Two infants with del(3)(p25pter) and a review of previously reported cases.
作者信息
Ramer J C, Ladda R L, Frankel C
机构信息
Department of Pediatrics, Milton S. Hershey Medical Center, Pennsylvania State University, Hershey 17033.
出版信息
Am J Med Genet. 1989 May;33(1):108-12. doi: 10.1002/ajmg.1320330115.
PMID:2665488
Abstract
Del(3)(p25pter) is associated with a characteristic multiple congenital anomalies/mental retardation syndrome. Early recognition of these manifestations and identification of the chromosome defect are essential for proper management and counseling.
摘要
3号染色体短臂2区5带至短臂末端缺失（Del(3)(p25pter)）与一种典型的多发性先天性异常/智力发育迟缓综合征相关。早期识别这些表现并鉴定染色体缺陷对于正确的管理和咨询至关重要。
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