| Autor: |
Tar, Attila, Sólyom, János, Györvári, Borbála, Ion, Alexandra, Telvi, Louise, Barbaux, Sandrine, Souleyreau, Nicole, Vilain, Eric, Fellous, Marc, McElreavey, Ken |
| Zdroj: |
Human Genetics; 1995, Vol. 96 Issue 4, p464-468, 5p |
| Abstrakt: |
A case of a true hermaphrodite presenting with a karyotype of 46,X,del(X)(p21.1→pter) is described. The testis-determining gene, SRY, was not detected in DNA prepared from either peripheral blood lymphocytes or from a gonad biopsy. The patient also presented with a series of discrete somatic abnormalities, including abnormal skin and retinal pigmentation, and mental retardation. The extent of the Xp deletion was mapped by Southern blotting. X chromosome replication studies of lymphoblast cells prepared from the patient indicated that the deleted X chromosome was inactivated in all cells examined. It is suggested that the phenotype of the patient is caused by the unmasking of a recessive allele(s) on the grossly intact X chromosome. The relationship between the Xp deletion, the intersex phenotype, and the possible role of an Xp locus involved in human sex determination is discussed. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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