作者: Philip D. Buchanan , Robin L. Rhodes , C. Edward Stevenson , John M. Opitz
关键词: Pathology 、 Biology 、 Gene 、 Genetics(clinical)
摘要: We present an 8-month-old female with severe retardation of growth and development, multiple congenital anomalies, interstitial deletion del(2)(q31 leads to q33) including results cytogenetic gene marker studies. The manifestations this infant are compared those four other known patients a partial del(2q).