两例因rcpt(12;21)(p11;p11)导致的12号染色体短臂三体综合征病例在三代人中遗传。
Two cases of trisomy 12p due to rcpt (12;21)(p11;p11) inherited through three generations.
作者信息
Parslow M, Chambers D, Drummond M, Hunter W
出版信息
Hum Genet. 1979 Apr 5;47(3):253-60. doi: 10.1007/BF00321017.
PMID:457115
Abstract
Two cases of trisomy 12p due to a familial translocation t(12;21) (p11;p11) inherited through three generations are presented. The clinical features of both affected individuals are consistent with those previously reported. Study of the NORs by silver staining showed translocation of the NOR from chromosome 21 onto the der(12) and suggested that the activity of this site has been suppressed in some carriers.
摘要
本文报告了两例因家族性易位t(12;21)(p11;p11)导致的12号染色体短臂三体病例，该易位在三代人中传递。两名受影响个体的临床特征与先前报道的一致。通过银染对核仁组织区（NORs）进行研究，结果显示NOR从21号染色体易位至der(12)，提示该位点的活性在一些携带者中受到抑制。
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