PCR detection of Y-specific sequences in patients with Ullrich-Turner syndrome: Clinical implications and limitations

American Journal of Medical Genetics

Volumn 76, Issue 4, 1998, Pages 283-287

  Osipova, G R ^a   Karmanov, M E ^b   Kozlova, S I ^a   Evgrafov, O V ^c  

^a Russian Medical Academy of Postgraduate Education   (Russian Federation)

^b Russian Children's Hospital   (Russian Federation)

^c RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

Author keywords

Amelogenin gene; PCR amplification; SRY; Ullrich Turner syndrome

Indexed keywords

AMELOGENIN;

ADOLESCENT; ARTICLE; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME MOSAICISM; CLINICAL ARTICLE; FEMALE; HUMAN; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TURNER SYNDROME; VIRILIZATION; Y CHROMOSOME;

ADOLESCENT; AMELOGENIN; CHILD; DENTAL ENAMEL PROTEINS; DNA; DNA-BINDING PROTEINS; FEMALE; GONADOBLASTOMA; GONADS; HUMANS; KARYOTYPING; MALE; MOSAICISM; NUCLEAR PROTEINS; PHENOTYPE; POLYMERASE CHAIN REACTION; SEX-DETERMINING REGION Y PROTEIN; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC; TURNER SYNDROME; VIRILISM; X CHROMOSOME; Y CHROMOSOME;

EID: 0032054037     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980401)76:4<283::AID-AJMG1>3.0.CO;2-R     Document Type: Article

References (22)

1. Bergsma D (1979): "Birth Defects Compendium," 2nd ed. New York: Alan R. Liss, Inc., pp 1056-1058.
2. Berkovitz GD, Fechner PY, Marcantonio SM, Bland G, Stellen G, Goodfellow PN, Smith KD, Migeon CJ (1992): The role of the sexdetermining region of the Y chromosome (SRY) in Ihe etiology of 46,XX true hermaphroditism. Hum Genet 88:411-416.
3. Bisat T, May K, Litwer S, Broccker B (1993): Y chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype and virilized external genitalia. Clin Genet 44:142-145.
4. Diekmann L, Palm K, Pfeiffer RA, Traulmann U, Scholz W, Schroers E, Vogt P, Kohler M (1992): Mulliple minute marker chromosomes derived from Y identified by FISH in an intersexual infant. Hum Genet 90:181-183.
5. Fechner PY, Marcantonio SM, Jaswaney V, Stellen G, Goodfellow PN, Migeon CJ, Smilh KD, Berkovitz GD, Amrhein JA, Bard PA, Lee P, Reid CH, Tsalikian E, Urban M (1993): The role of the sex-delermining region Y gene in Ihe etiology of 46.XX maleness. J Clin Endocrinol Metab 76:690-695.
6. Gal A, Weber B, Neri G, Serra A, Muller U, Schempp W, Page DC (1987): A 45,X male with Y-specific DNA Iranslocaled onto chromosome 15. Am J Hum Genet 40:477-488.
7. Gubbay J, Collignon J, Koopman P, Capel B, Economou A, Munsterberg A, Vivian N, Goodfellow P, Lovell-Badge R (1990): A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes. Nature 346:245-250.
8. Jackson DP, Hayden JD, Quarke P (1993): Exlraction of nucleic acid from fresh and archival material. In McPherson MJ, Quirke P, Taylor GR (eds): "PCR: A Practical Approach." New York: Oxford University Press, pp 29-50.
9. Kocova M, Siegel SF, Wenger SL, Lee PA, Nalesnik M, Trucco M (1995): Deteclion of Y chromosome sequences in a 45,X/46,XXq-patient by Southern blot analysis of PCR-amplified DNA and fluorescent in situ hybridizalion (FISH). Am J Med Genet 55:483-88,
10. Lindblom B, Holmlund G (1988): Rapid DNA purification for reslriclion fragment length polymorphism analysis. Gene Anal Techn 5:97-101.
11. Lindgren V, Chen C, Bryke CR, Lichter P, Page DC, Yang-Feng TL (1992): Cytogenelic and molecular characterization of marker chromosomes in patients with mosaic 45,X karyotypes. Hum Genet 88:393-398.
12. Lo KW, Lam SK, Cheung TH, Wong SP, Chang A, Chow JH (1996): Gonadoblastoma in patient with Turner's syndrome. J Obstet Gynaecol 22:35-41.
13. McElreavey K, Rappaport R, Vilain E, Abbas N, Richaud F, Lortat-Jacob S, Berger R, LeConiat M, Boucekkine C, Kucheria K, Temtamy S, NihoulFekeler C, Brauner R, Fellous M (1992): A minorily of 46.XX Irue hermaphrodites are positive for Ihe Y-DNA sequence including SRY. Hum Genet 90:121-125.
14. McElreavey K, Vilain E, Abbas N, Herskowitz I, Fellous M (1993): A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development Proc Natl Acad Sei USA 90:3368-3372.
15. Nakahori Y, Takenaka O, Nakagome Y (1991): A human X-Y homologous region encodes amelogenin. Genomics 9:264-269.
16. Page DC (1987): Hypothesis: A Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads. Development 101:151-155.
17. Saenger P (1993): Clinical review 48: The current status of diagnosis and therapeutic intervention in Turner's syndrome. J Clin Endocrinol Metab 77:297-301.
18. Salo P, Kaariainen H, Petrovic V, Peltomaki P, Page DC, de la Chapelle A (1995): Molecular mapping of the putative gonadoblastoma locus on the Y chromosome. Genes Chromosomes Cancer 14:210-214.
19. Tsuchiya K, Reijo R, Page DC, Disteche CM (1995): Gonadoblastoma: Mo-lecular definition of the susceptibility region on the Y chromosome. Am J Hum Genet 57:1400-1407.
20. Vilain E, Jaubert F, Fellous M, McElreavey K (1993): Pathology of 46.XY pure gonadal dysgenesis: Absence of testis differentiation associated with mutations in the testis-determining factor. Differentiation 52: 151-159.
21. Wiedemann HR, Grosse KR, Dibbern H (1982): "An Atlas of Characteristic Syndromes." London: Wolfe Medical Publications, Ltd., pp 128-129.
22. Yukizane S, Yamakawa R, Murakami T, Kato H, Niikawa N (1994): A 15-year-old girl with pubertal masculinization due to bilateral gonadoblastoma and 45,X/46,X, + mar karyotype. Kurume Med J 41:155-159.