Kessel E, Pfeiffer R A
Hum Genet. 1977 Jun 10;37(1):111-6. doi: 10.1007/BF00293781.
Report of a supernumerary extra chromosome der(11;22)(q23;q12) resulting from a balanced translocation in the mother. The propositus suffers from mental deficiency, deafness and extreme muscular weakness and exhibits cleft palate, a labial lymphangioma and an atrial septum defect. Since the features of partial trisomy 11q23 frequently associated with a translocation t(11q;22q) bear similarities with the cases of so called trisomy 22 one might conjecture that some of these observations are in fact products of translocations including partial 11q.
关于母亲平衡易位导致额外衍生染色体der(11;22)(q23;q12)的报告。先证者患有智力缺陷、耳聋和极度肌肉无力,并表现出腭裂、唇部淋巴管瘤和房间隔缺损。由于部分11q23三体的特征常与11q;22q易位相关,且与所谓的22三体病例相似,因此有人可能推测,其中一些观察结果实际上是包括部分11q在内的易位产物。