47,XXY female with testicular feminization and positive SRY: A case report

Journal of Reproductive Medicine for the Obstetrician and Gynecologist

Volumn 50, Issue 2, 2005, Pages 138-140

  Saavedra Castillo, Eloisa ^a   Cortés Gutiérrez, Elva I ^a,b   Dávila Rodríguez, Martha I ^a   Reyes Martínez, María Eugenia ^a   Oliveros Rodríguez, Amalia ^a  

^a INSTITUTO MEXICANO DEL SEGURO SOCIAL   (Mexico)

^b Instituto Mexicano del Seguo Social   (Mexico)

Author keywords

Gene; Sex chromosome aberrations; SRY; Testicular feminization

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CYTOGENETICS; FEMALE; FEMINIZATION; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPE 47,XXY; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SRY GENE; Y CHROMOSOME;

ADULT; ANDROGEN-INSENSITIVITY SYNDROME; BASE SEQUENCE; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, Y; FEMALE; FOLLOW-UP STUDIES; GENES, SRY; HUMANS; IN SITU HYBRIDIZATION; KARYOTYPING; MALE; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION;

EID: 13444271865     PISSN: 00247758     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

1. Jacobs PA, Hassold TJ, Whittington E, et al: Klinefelter's syndrome: An analysis of the origin of the additional sex chromosome using molecular probes. Ann Hum Genet 1988;52:93-109
2. Jacobs PA, Strong JA: A case of human intersexuality having a possible XXY sex determining mechanism. Nature 1959;183:302-303
3. German J, Vesell M: Testicular feminization in monozygotic twins with 47 chromosomes (XXY). Ann Genet 1966;9:5-8
4. Bartsch-Sandhoff M, Stephan L, Röhrborn G, et al: Ein Fall von testiculärer Feminisierung mit dem karotyp 47,XXY. Hum Genet 1976;31:59-65
5. Gerli M, Migliorini G, Bocchini V, et al: A case of complete testicular feminization and 47,XXY karyotype. J Med Genet 1979;16:480-483
6. Müler U, Schneider NR, Marks JF, et al: Maternal meiosis II nondisjunction in a case of 47,XXY testicular feminization. Hum Genet 1990;84:289-292
7. Schmid M, Guttenbach M, Enders H, et al: A 47,XXY female with unusual genitalia. Hum Genet 1992;90:346-349
8. Thangaraj K, Gupta NJ, Chakravarty B, et al: A 47,XXY female. Lancet 1998;352:1121
9. Uehara S, Tamura M, Nata M, et al: A complete androgen insensitivity in a 47,XXY patient with uniparental disomy for the X chromosome. Am J Med Genet 1999;86:107-111
10. Domenice S, Corra RV, Costa EM, et al: Mutations in the SRY, DAX1, SF1 and WNT4 gene in Brazilian sex-reversed. Braz J Med Biol Res 2004;37:145-150
11. Hawkins JR, Taylor A, Berta P, et al: Mutational analysis of SRY: Nonsense and missense mutations in XY sex reversal. Hum Genet 1992;88:471-474
12. Verma R, Babu A: Human Chromosome: Manual of Basic Techniques. New York, Pergamon Press, 1989, pp 45-67
13. Pinkel D, Landegent J, Collins C, et al: Fluorescence in situ hybridization with human chromosome-specific libraries: Detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci USA 1988;85:9138-9142
14. Röttger S, Schiebel K, Senger G, et al: An SRY-negative 47,XXY mother and daughter. Cytogenet Cell Genet 2000;91:204-207
15. Kawakami T, Okamoto K, Sugihara H, et al: The role of supernumerical X chromosomes and XIST expression in testicular germ cell tumors. J Urol 2003;169:1546-1552