RESUMEN
We report on a patient with a 47,XXY karyotype who presents a normal female phenotype, which is an extremely rare observation worldwide. The patient is infertile. Type B ultrasound scans and other tests suggested that her ovaries had completely failed. Microsatellite DNA marker analysis revealed that the 2 X chromosomes were derived from her mother and that this abnormality was caused by non-disjunction of the maternal X chromosomes during meiosis II. Copy number variation analysis identified 2 large de novo deletions in her Y chromosome. Remarkably, one of the deleted regions includes the SRY gene locus, which might explain her female phenotype. However, the genetic mechanism of her ovarian failure remains unclear. This paper is the first report of a 47,XXY female with ovarian failure.
Asunto(s)
Síndrome de Klinefelter/diagnóstico , Insuficiencia Ovárica Primaria/diagnóstico , Adulto , Cromosomas Humanos Y/genética , Femenino , Eliminación de Gen , Genes sry , Humanos , Síndrome de Klinefelter/genética , Técnicas de Diagnóstico Molecular , Linaje , Polimorfismo de Nucleótido Simple , Insuficiencia Ovárica Primaria/genéticaRESUMEN
OBJECTIVE: To identify the disease-causing mutation in a Chinese family with brachydactyly type B (BDB). METHODS: Genomic DNA was extracted from peripheral blood samples of family members. Exons 8 and 9 of the ROR2 gene were amplified by polymerase chain reaction (PCR) and sequenced directly. Furthermore, the PCR products showing mutation were cloned into pMD18T vector and the insert fragments were sequenced. RESULTS: A 1398-1399 insA heterozygous mutation was detected in the patient. This mutation had been found in German families with BDB. CONCLUSION: To the authors' knowledge, it is the first report on identification of the ROR2 pathogenic mutation in Chinese patients with BDB.