title: Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion.
abstract: 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.
authors.affiliation: Buda Children's Hospital, Budapest, Hungary.
authors.forename: A
authors.initials: A
authors.lastname: Tar
authors.forename: J
authors.initials: J
authors.lastname: Sólyom
authors.forename: B
authors.initials: B
authors.lastname: Györvári
authors.forename: A
authors.initials: A
authors.lastname: Ion
authors.forename: L
authors.initials: L
authors.lastname: Telvi
authors.forename: S
authors.initials: S
authors.lastname: Barbaux
authors.forename: N
authors.initials: N
authors.lastname: Souleyreau
authors.forename: E
authors.initials: E
authors.lastname: Vilain
authors.forename: M
authors.initials: M
authors.lastname: Fellous
authors.forename: K
authors.initials: K
authors.lastname: McElreavey
mesh_terms: D002648:Child; D004247:DNA / Q000032:analysis; D012734:Disorders of Sex Development / Q000235:genetics* / Q000473:pathology; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007621:Karyotyping; D008297:Male; D010859:Pigmentation Disorders / Q000235:genetics / Q000473:pathology; D016133:Polymerase Chain Reaction; D013737:Testis / Q000473:pathology*; D014960:X Chromosome
chemical_list: D004247:DNA