Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion

Attila Tar, János Sólyom, Borbála Györvári, Alexandra Ion, Louise Telvi, Sandrine Barbaux, Nicole Souleyreau, Eric Vilain, Marc Fellous, Ken McElreavey

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18 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)464-468
Number of pages5
JournalHuman genetics
Issue number4
Publication statusPublished - okt. 1 1995


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Tar, A., Sólyom, J., Györvári, B., Ion, A., Telvi, L., Barbaux, S., Souleyreau, N., Vilain, E., Fellous, M., & McElreavey, K. (1995). Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion. Human genetics, 96(4), 464-468. https://doi.org/10.1007/BF00191807