Presence of the AZF region in a female with an idic(Y)(q11)
| Autor: | K R Held, J. Jenderny, W. Schmidt |
|---|---|
| Rok vydání: | 1998 |
| Předmět: |
Male
endocrine system Gonad Turner Syndrome Gonadoblastoma Chromosome Disorders Biology Y chromosome Dicentric chromosome Y Chromosome Turner syndrome Genetics medicine Humans Child In Situ Hybridization Fluorescence Genetics (clinical) Chromosome Aberrations Azoospermia Azoospermia factor urogenital system RNA-Binding Proteins DNA Deleted in Azoospermia 1 Protein Oligospermia medicine.disease Testis determining factor medicine.anatomical_structure Female |
| Zdroj: | Clinical Genetics. 54:341-344 |
| ISSN: | 0009-9163 |
| Popis: | In a child with some features of Turner's syndrome, gonosomal mosaicism with an isodicentric nonfluorescent (idic)Y chromosome was detected (mos 45,X/47,X,idic(Y)(q11),idic(Y)(11)/46,X,idic(Y)(q11)). Histopathological examination showed streak gonads with some evidence of ovarian stroma and no sign of gonadoblastoma. Polymerase chain reaction (PCR) analysis in blood lymphocytes and gonadal tissues using primers of seven loci along the Y chromosome, including the sex determined region (SRY), azoospermia factor region (AZF) and the deleted in azoospermia (DAZ) gene was positive for all loci tested, confirming the isodicentric character of the Y chromosome and indicating the presence of the AZF region. It is remarkable that the existence of spermatogenesis controlling genes does not play an important role in gonadal development and differentiation in a phenotypic female with some Turner stigmata. The data presented here are briefly discussed with previously-described patients. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text