High frequency of tissue-specific mosaicism in Turner syndrome patients

Clinical Genetics

Volumn 56, Issue 1, 1999, Pages 59-65

  Nazarenko, Sergey A ^a   Timoshevsky, Vladimir A ^a   Sukhanova, Natalia N ^a  

^a RESEARCH INSTITUTE OF MEDICAL GENETICS   (Russian Federation)

Author keywords

Chromosome X; Cytogenetic diagnostics; Tissue specific mosaicism; Turner syndrome

Indexed keywords

ADOLESCENT; ADULT; ANEUPLOIDY; ARTICLE; CHILD; CLINICAL ARTICLE; DIAGNOSTIC ACCURACY; DNA PROBE; ECTODERM; EPITHELIUM CELL; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; INTERPHASE; KARYOTYPING; LYMPHOCYTE; MESODERM; METAPHASE; MONOSOMY X; MOSAICISM; MOUTH MUCOSA; PRIORITY JOURNAL; SCHOOL CHILD; TURNER SYNDROME; X CHROMOSOME;

ADOLESCENT; ADULT; ANEUPLOIDY; CELLS, CULTURED; CHILD; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTERPHASE; MOSAICISM; TURNER SYNDROME; X CHROMOSOME;

EID: 0032817336     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.1999.560108.x     Document Type: Article

References (19)

1. Jacobs PA, Brunton M, Court Brown WM, Doll R, Goldstein H. Change of human chromosome count distributions with age: evidence for a sex difference. Nature 1963: 197: 1080-1081.
2. Guttenbach M, Koschorz B, Bernthaler U, Grimm T, Schmid M. Sex chromosome loss and aging: in situ hybridization studies on human interphase nuclei. Am J Hum Genet 1995: 57: 1143-1150.
3. Hando JC, Tucker JD, Davenport V, Tepperberg J, Nath J. X chromosome inactivation and micronuclei in normal and Turner individuals. Hum Genet 1997: 100: 624-628.
4. Cremer T, Tesin D, Hopman AHN, Manuelidis L. Rapid interphase and metaphase assessment of specific chromosomal changes in neuroectodermal tumor cells by in situ hybridization with chemically modified DNA probes. Exp Cell Res 1988: 178: 199-220.
5. Klinger K, Landes G, Shook D, Harvey R, Lopez L, Locke P, Lerner T, Osathanondh R, Leverone B, Houseal T, Pavelka K, Dackowski W. Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH). Am J Hum Genet 1992: 51: 55-65.
6. Lomax BL, Kalousek DK, Kuchinka BD, Barrett IJ, Harrison KJ, Safavi H. The utilization of interphase cytogenetic analysis for the detection of mosaicism. Hum Genet 1994: 93: 243-247.
7. Nazarenko SA, Timoshevsky VA, Ostroverkhova NV. Interphase analysis of X aneuploidy by the fluorescence in situ hybridization in various tissues of healthy individuals. Genetika 1997: 33: 1426-1430.
8. Larsen T, Gravholt CH, Tillebeck A, Larsen H, Jensen MB, Nielsen J, Friedrich U. Parental origin of the X chromosome, X chromosome mosaicism and screening for "hidden" Y chromosome in 45,X Turner syndrome ascertained cytogenetically. Clin Genet 1995: 48: 6-11.
9. Kuleshov NP, Simonian IV. Diagnostics of mosaic forms of karyotype anomalies in clinical cytogenetics research. Cytol Genet 1987: 21: 60-63.
10. Yurov YuB, Yakovlev AG, Alexandrov IA, Mitkevich SP, Rogaev El, Vorsanova SG. Collection of α-satellite DNA probes: highly polymorphic markers for centromeric regions of all chromosomes. Cytogenet Cell Genet 1989: 51: 1114.
11. Lichter P, Cremer T. Chromosome analysis by non-isotopic in situ hybridization. In: Rooney DE, Czepulkowski BH, eds. Human cytogenetics. A practical approach, 1. New York: Oxford University Press, 1992: 157-192.
12. Yorifuji T, Muroi J, Kawai M, Sasaki H, Momui T, Furusho K. PCR-based detection of mosaicism in Turner syndrome patients. Hum Genet 1997: 99: 62-65.
13. Lopez M, Canto P, Aguinaga M, Torres L, Cervantes A, Alfaro G, Mendez JP, Kofman-Alfaro S, Frequency of Y chromosomal material in Mexican patients with Ullrich-Turner syndrome. Am J Med Genet 1998: 76: 120-124.
14. Osipova GR, Karmanov ME, Kozlova SI, Evgrafov OV. PCR detection of Y-specific sequences in patients with Ullrich-Turner syndrome. Am J Med Genet 1998: 76: 283-287.
15. Hassold TJ, Pettay D, Robinson A, Uchida I. Molecular studies of parental origin and mosaicism in 45,X conceptuses. Hum Genet 1992: 89: 647-652.
16. Papenhausen PR, Mueller OT, Bereu B, Salazar J, Tedesco TA. Cell line segregation in a 45,X/46,XY mosaic child with asymmetric leg growth. Clin Genet 1991: 40: 237-241.
17. Varela M, Shapira E, Hyman DB. Ullrich-Turner syndrome in mother and daughter: prenatal diagnosis of a 46,X,del(X)(p21) offspring from a 45,X mother with low-level mosaicism for the del(X)(p21) in one ovary. Am J Med Genet 1991: 39: 411-412.
18. Bisat T, May K. Litwer S, Broecker B. Y chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype and virilized external genitalia. Clin Genet 1993: 3: 142-145.
19. Fernandez R, Mendez J, Pasaro E. Turner syndrome: a study of chromosomal mosaicism. Hum Genet 1996: 98: 29-35.