Rosenmann A, Isacson M, Cohen R, Segal M, Cohen M M
Ann Genet. 1978 Mar;21(1):60-4.
Partial trisomy 18 is described in a two month old female with severe mental, motor and growth retardation, associated with multiple congenital anomalies characteristic of complete trisomy 18. Trisomy for almost all of 18q resulted from adjacent I segregation of a paternally inherited translocation t(13; 18)(q32:q11). The balanced translocation was observed in three generations of the family. Partial trisomy 18q identical to that observed in the proband was found in a subsequent miscarriage.
一名两个月大的女性被诊断为18号染色体部分三体综合征，伴有严重的智力、运动和生长发育迟缓，并伴有完全性18号染色体三体综合征的多种先天性异常特征。几乎整个18号染色体长臂的三体性是由父系遗传的t(13; 18)(q32:q11)易位的相邻I分离所致。在该家族的三代人中都观察到了这种平衡易位。在随后的一次流产中发现了与先证者相同的18号染色体长臂部分三体。
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