一例患有母系家族性平衡易位t(1;2)(q32;q21)的特纳综合征病例。

Kondo I, Hamaguchi H, Matsuura A, Nakajima H, Koyama A, Takita H

J Med Genet. 1979 Aug;16(4):321-3. doi: 10.1136/jmg.16.4.321.

The first case of Turner's syndrome with the familial translocation not involving the X chromosome is described. The patient had a number of clinical signs of Turner's syndrome and her karyotype was 45,X,t(1;2)(q32;q2)mat. Though it is speculated that the altered structure of a chromosome may influence meiotic disjunction of a non-homologous chromosome, our case suggests that there may be no relationship between the two chromosomal abnormalities.

本文描述了首例伴有不涉及X染色体的家族性易位的特纳综合征病例。该患者有许多特纳综合征的临床体征，其核型为45,X,t(1;2)(q32;q2)mat。尽管推测染色体结构改变可能会影响非同源染色体的减数分裂分离，但我们的病例表明这两种染色体异常之间可能没有关系。