Nikolis J, Stolević E
Hum Genet. 1978 Dec 18;45(2):115-22. doi: 10.1007/BF00286953.
A structural X chromosome abnormality was found in the karyotype of a tall patient with gonadal dysgenesis and with no extragenital anomalies. Based on her mother's karyotype, which showed a pericentric inversion of the X chromosome: 46,X,inv(X)(p22q24), as well as from G and R banding, we concluded that the abnormal X chromosome of our patient was a recombinant chromosome that had originated as a result of one crossing over in the inversion loop during gametogenesis in her mother. The recombinant X chromosome had a partial delection of Xq and a partial duplication of Xp: 46,X,rec(S),dup p,inv(X)(p22q24). After BUDR incorporation, the abnormal X chromosome of the patient and that of her mother showed a late replication. The karyotype-phenotype correlation and the nonrandom inactivation of the inverted X chromosome in the mother are discussed.
在一名身材高大、患有性腺发育不全且无生殖器外异常的患者核型中发现了一种结构性X染色体异常。根据其母亲的核型显示X染色体臂间倒位：46,X,inv(X)(p22q24)，以及G带和R带分析，我们得出结论，该患者异常的X染色体是一条重组染色体，它起源于其母亲配子发生过程中倒位环内的一次交换。这条重组X染色体有Xq的部分缺失和Xp的部分重复：46,X,rec(S),dup p,inv(X)(p22q24)。在掺入溴脱氧尿苷后，患者及其母亲的异常X染色体均表现为复制延迟。文中讨论了核型与表型的相关性以及母亲倒位X染色体的非随机失活情况
