SRY-negative true hermaphrodites and an XX male in two generations of the same family

Human Genetics

Volumn 97, Issue 5, 1996, Pages 596-598

  Ramos, Ester S ^a   Moreira Filho, Carlos A ^a   Vicente, Yvone A M V A ^a   Llorach Velludo, Maria A S ^a   Tucci Jr , Silvio ^a   Duarte, Maria H O ^a   Araújo, Amélia G ^a   Martelli, Lucia ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; FAMILIAL DISEASE; FEMALE; GENITAL MALFORMATION; HERMAPHRODITISM; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; NEWBORN; PEDIGREE; PENETRANCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEX DETERMINATION; X CHROMOSOME LINKAGE; XX MALE; Y CHROMOSOME;

EID: 0029878147     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02281867     Document Type: Article

References (17)

1. Abbas NE, Toublanc JE, Boucekkine C, Toublanc M, Affara NA, Job J-C, Fellous M (1990) A possible common origin of "Y-negative" human XX males and XX true hermaphrodites. Hum Genet 84:356-360
2. Chapelle A de la (1987) The Y-chromosomal and autosomal testisdetermining gene. Development 101 [Suppl] : 33-38
3. Chapelle A de la, Schröder J, Murros J, Tallqvist G (1977) Two XX males in one family and additional observations bearing on the etiology of XX males. Clin Genet 11 : 91-106
4. Ferguson-Smith MA (1966) Chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet 27 : 475-476
5. Guerreiro JF, Figueiredo MS, Santos SEB, Zago MA (1992) β-Globin gene cluster haplotypes in Yanomama Indians from Amazon region of Brazil. Hum Genet 89 : 629-631
6. Hook EB (1977) Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use. Am J Hum Genet 29 : 94-97
7. Kasdan R, Nankin HR. Troen P, Wald N. Pan S, Yanaihara T (1973) Paternal transmission of mateness in XX human beings. N Engl J Med 288 : 539-545
8. Kuhnle U, Schwarz HP, Löhrs U, Stengel-Ruthkowski, Cleve H, Braun A (1993) Familial true hermaphroditism: paternal and maternal transmission of true hermaphroditism (46,XX) and XX maleness in the absence of Y-chromosomal sequences. Hum Genet 92 : 571-576
9. McElreavey K. Vilain E. Abbas N, Herskowitz. Fellous M (1993 a) A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development. Proc Natl Acad Sci USA 90:3368-3372
10. McElreavey K, Vilain E, Cotinot C, Payen E, Fellous M (1993b) Control of sex determination in animals. Eur J Biochem 218 : 769-783
11. Ostrer H, Wrigth G, Clayton M, Skordis N, MacGillivray MH (1989) Familial XX chromosomal maleness does not arise from a Y chromosomal translocation. J Pediatr 114 : 977-982
12. Page DC, Chapelle A de la, Weissenbach JL (1985) Chromosome Y-specific DNA in related human XX males. Nature 315 : 224-226
13. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual. 2nd edn. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
14. Scheres JMJC (1972) Human chromosome bandins. Lancet I: 172-174
15. Sinclair AH. Berta P, Palmer MS, Hawkins JR, Griffiths BL. Smith MJ. Foster JW, Fnschauf A-M. Lovell-Badge R. Good-fellow PN (1990) A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-bindine motif. Nature 346:240-244
16. Skordis NA. Stetka DG, MacGillivray MH. Greenfield SP (1987) Familial 46,XX true hermaphrodites in some pedigrees. J Pediatr 110 : 244-248
17. Vilain E, McElreavey K, Jaubert F. Raymond J-P. Richaud F. Fellous M (1992) Familial case with sequence variant in the testisdetermining region associated with two sex phenotypes. Am J Hum Genet 50 : 1008-1011