Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1→q24 in different offspring
作者： Roger A. Williamson , Michael A. Donlan , Cynthia R. Dolan , Horace C. Thuline , Mary T. Harrison
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摘要: The use of elongated prophase and prometaphase chromosome preparations has allowed detection an insertion a small segment 3q into 11q in kindred with 4 balanced carriers 8 unbalanced offspring. Those partial deletion have true multiple congenital anomalies/mental retardation (MCA/MR) syndrome appearance suggestive the Schwartz-Jampel syndrome.
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