Karp L, Bryant J I, Tagatz G, Giblett E, Fialkow P J
J Med Genet. 1975 Mar;12(1):70-8. doi: 10.1136/jmg.12.1.70.
A case is presented of a monozygotic twin pair, discordant for phenotypic sex, in which the female member showed gonadal dysgenesis and chromosomal mosaicism. Review of the pertinent literature reveals that in monozygotic twin pairs, phenotypic and karyotypic concordance is the usual occurrence for Down's and Klinefelter's syndromes, whereas discordance often accompanies gonadal dysgenesis. Mosaicism is a frequent concomitant of gonadal dysgenesis in monozygotic twins. Our case strengthens the probability of a real association between mosaicism and monozygotic twinning in gonadal dysgenesis.
本文报告了一对单卵双胞胎，其表型性别不一致，其中女性成员表现为性腺发育不全和染色体嵌合体。对相关文献的回顾显示，在单卵双胞胎中，唐氏综合征和克兰费尔特综合征通常表现为表型和核型一致，而性腺发育不全往往伴有不一致。嵌合体是单卵双胞胎性腺发育不全的常见伴随现象。我们的病例增加了嵌合体与单卵双生在性腺发育不全中存在真正关联的可能性。
