[Clinical phenotype and genetic analysis of a patient with 12q22-qter duplication and Xq23-qter deletion caused by maternal balanced translocation].

Objective: To explore the clinical phenotype and genetic diagnosis of a patient featuring secondary amenorrhea, breast dysplasia and mental retardation.

Methods: Peripheral venous blood samples were collected from the patient and her family members and subjected to G-banding karyotyping and single nucleotide polymorphism array (SNP-array) analysis.

Results: The patient was found to have a karyotype of 46,X,der(X)(12qter→ 12q22::Xq23→ Xpter)mat, her mother had a karyotype of 46,X,t(X;12)(Xpter→ Xq23::12q22→ 12qter;12pter→ 12q22::Xq23→ Xqter), while her father and brother were both 46,XY.