Zabel B, Baumann W
Ann Genet. 1977 Dec;20(4):285-9.
Partial trisomy for the distal part of 15q due to a balanced maternal translocation t(X;15) is described in a 21-month old girl with growth and psychomotor retardation and a cranio-facial dysmorphism ressembling that of a previously reported patient. Treatment of lymphocytes with BrdU has shown inactivation of the normal X in the mother, and inactivation of either the abnormal or the normal X in the proposita. When the abnormal X was inactivated, the extent of inactivation of the autosome was variable.
一名21个月大的女孩因母亲的平衡易位t(X;15)导致15q远端部分三体，表现出生长和精神运动发育迟缓以及颅面畸形，与之前报道的一名患者相似。用溴脱氧尿苷（BrdU）处理淋巴细胞显示，母亲体内正常的X染色体失活，而在该患者中，异常或正常的X染色体均有失活。当异常的X染色体失活时，常染色体的失活程度是可变的。
