XX true hermaphroditism in southern African blacks: exclusion of SRY sequences and uniparental disomy of the X chromosome.

A molecular investigation of 16 Bantu-speaking Black XX true hermaphrodites was undertaken in an attempt to determine the cause of the disorder. Y-specific sequences, including sequences mapping to the sex-determining region of the Y, were shown to be absent from lymphocyte tissue of all 16 patients tested. Y chromosome sequences were also absent from the ovarian and testicular components of both ovotestes of a single XX true hermaphrodite, thus excluding gonadal mosaicism involving Y chromosome sequences. Since there is evidence for Xp genes involved in testis determination/differentiation, uniparental disomy of the X chromosome was investigated in 14 XXTH families. Uniparental disomy was excluded in 12 of the 14 families, and isodisomy was excluded in the remaining two cases.

[1]  A. Schinzel.  NICHD conference. Genomic imprinting: consequences of uniparental disomy for human disease. , 1993, American journal of medical genetics.

[2]  E. Engel,et al.  Uniparental disomy revisited: the first twelve years. , 1993, American journal of medical genetics.

[3]  L. Bolund,et al.  Assignment of an autosomal sex reversa– locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3–q25.1 , 1993, Nature Genetics.

[4]  A. Spurdle,et al.  The Y-associated XY275 low allele is not restricted to indigenous African peoples. , 1992, American journal of human genetics.

[5]  P. Goodfellow,et al.  Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation. , 1992, Journal of medical genetics.

[6]  H. Zoghbi,et al.  Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. , 1992, American journal of human genetics.

[7]  Peter Goodfellow,et al.  "Male Development of Chromosomally Female Mice Transgenic for Sry gene" (1991), by Peter Koopman, et al. , 2014 .

[8]  M. Anvret,et al.  A human XY female with a frame shift mutation in the candidate testis-determining gene SRY , 1990, Nature.

[9]  A. Sinclair,et al.  Genetic evidence equating SRY and the testis-determining factor , 1990, Nature.

[10]  Robin Lovell-Badge,et al.  A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif , 1990, Nature.

[11]  K. Kidd,et al.  Strong linkage disequilibrium between the XY274 polymorphism and the pseudoautosomal boundary. , 1990, American journal of human genetics.

[12]  D. Ledbetter,et al.  Five polymorphic microsatellite VNTRs on the human X chromosome. , 1990, American journal of human genetics.

[13]  D. Page,et al.  XX true hermaphroditism in southern African blacks: an enigma of primary sexual differentiation. , 1988, American journal of human genetics.

[14]  Shirley A. Miller,et al.  A simple salting out procedure for extracting DNA from human nucleated cells. , 1988, Nucleic acids research.

[15]  M. Macgillivray,et al.  Familial 46,XX males coexisting with familial 46,XX true hermaphrodites in same pedigree. , 1987, The Journal of pediatrics.

[16]  J. Weissenbach,et al.  A DNA probe detecting multiple haplotypes of the human Y chromosome. , 1986, American journal of human genetics.

[17]  K. Davies,et al.  Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms. , 1984, Proceedings of the National Academy of Sciences of the United States of America.

[18]  B. Sykes.  DNA IN HERITABLE DISEASE , 1983, The Lancet.

[19]  D. Botstein,et al.  Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes. , 1982, Proceedings of the National Academy of Sciences of the United States of America.

[20]  Van Niekerk,et al.  True hermaphroditism : clinical, morphologic and cytogenetic aspects , 1974 .

[21]  H. Levy.  Assessment of industrial disability. , 1945, Lancet.