Bennett C P, Docherty Z, Robb S A, Ramani P, Hawkins J R, Grant D
Department of Clinical Genetics, Leeds General Infirmary, UK.
J Med Genet. 1993 Jun;30(6):518-20. doi: 10.1136/jmg.30.6.518.
We report a case of a female infant with a de novo deletion of the short arm of chromosome 9, sex reversal, and an apparently intact SRY gene. Sex reversal has been reported in a number of subjects with a normal Y chromosome and a deletion of the terminal segment of the short arm of chromosome 9. The factors controlling early development of the male testes are unknown. There are likely to be many genes involved and we present additional evidence that one of these is situated on the end of the short arm of chromosome 9.
我们报告了一例女性婴儿病例，其9号染色体短臂发生新生缺失、性反转，且SRY基因明显完整。在许多具有正常Y染色体且9号染色体短臂末端片段缺失的受试者中都有性反转的报道。控制男性睾丸早期发育的因素尚不清楚。可能涉及许多基因，我们提供了额外的证据表明其中一个基因位于9号染色体短臂末端。
