Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion.
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.
Tar
A
A
Buda Children's Hospital, Budapest, Hungary.
Sólyom
J
J
Györvári
B
B
Ion
A
A
Telvi
L
L
Barbaux
S
S
Souleyreau
N
N
Vilain
E
E
Fellous
M
M
McElreavey
K
K
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
D004247:DNA