Sauer F, Greenstein R M, Reardon P, Riddick D H
Obstet Gynecol. 1977 Jan;49(1):101-4.
This is the first reported instance of a patient with gonadal dysgenesis that involves translocation of part of the long arm of an X chromosome to the short arm of a number 7 autosome. The importance of considering gonadal dysgenesis early in the evaluation of patients with secondary amenorrhea considered for ovulation induction is stressed. The relation between chromosomal rearrangement, phenotypic expression, and clinical presentation is discussed.
这是首例报道的性腺发育不全患者，其涉及X染色体长臂的一部分易位至7号常染色体短臂。强调了在对考虑诱导排卵的继发性闭经患者进行评估时尽早考虑性腺发育不全的重要性。讨论了染色体重排、表型表达和临床表现之间的关系。
