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© Research
Publication : Human genetics

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

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in Human genetics - 01 Oct 1995

Tar A, Sólyom J, Györvári B, Ion A, Telvi L, Barbaux S, Souleyreau N, Vilain E, Fellous M, McElreavey K

Link to Pubmed [PMID] – 7557971

Hum. Genet. 1995 Oct;96(4):464-8

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.