Telvi L, Bernheim A, Ion A, Fouquet F, Le Bouc Y, Chaussain J L
Laboratoire de Cytogénétique, Hôpital Saint Vincent de Paul, Paris, France.
Am J Med Genet. 1995 Jul 17;57(4):598-600. doi: 10.1002/ajmg.1320570416.
We report on a girl with syndromal gonadal dysgenesis and a de novo del(18p). Genetic factors controlling gonadal development are located not only on the X chromosome, but also on autosomes. The present case suggests that one of these genes is situated on 18p. We conclude that patients with del(18p) syndrome should be evaluated for gonadal dysgenesis.
我们报告了一名患有综合征性性腺发育不全和新发18号染色体短臂缺失（del(18p)）的女孩。控制性腺发育的遗传因素不仅位于X染色体上，也位于常染色体上。本病例表明这些基因之一位于18号染色体短臂上。我们得出结论，对于18号染色体短臂缺失（del(18p)）综合征患者，应评估其性腺发育不全情况。
