Pangalos C, Couturier J, Bartsocas C, Theodorou S
Nouv Presse Med. 1980 Nov 1;9(41):3065-7.
In a 4-month-old female infant with multiple congenital abnormalities karyotyping revealed a 47,XX, + der (22), t (11;22) (q23.1;q11.1) mat pattern, resulting from a maternal translocation, which was also found in other members of the mother's family. The phenotype was consistent with the physical abnormalities described in previously reported cases of partial 11 q trisomy. The apparently high incidence of this type of translocation is surprising.
在一名患有多种先天性异常的4个月大女婴中，染色体核型分析显示为47,XX, + der (22), t (11;22) (q23.1;q11.1) 母系模式，这是由一次母系易位导致的，在母亲家族的其他成员中也发现了同样的易位。该表型与先前报道的部分11号染色体三体病例中描述的身体异常相符。这种类型的易位明显高发令人惊讶。
