Phenotypic variability in isodicentric Y patients: Study of nice cases

Clinical Genetics

Volumn 70, Issue 2, 2006, Pages 145-150

  DesGroseilliers, M ^a,b,c   Beaulieu Bergeron, M ^a,b,c   Brochu, P ^a,b   Lemyre, E ^a,c   Lemieux, Nicole ^a,b,c  

^a UNIVERSITÉ DE MONTRÉAL   (Canada)

^b Département de Pathologie   (Canada)

^c UNIVERSITY OF MONTREAL   (Canada)

Author keywords

FISH; Isodicentric Y; Mosaicism; Sex chromosomes; Sexual ambiguity; Sexual differentiation; Turner syndrome

Indexed keywords

ADOLESCENT; AMBIGUITY; ARTICLE; CELL LINE; CHILD; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONTROLLED STUDY; CYTOGENETICS; DNA DETERMINATION; FEMALE; FEMALE GENITAL SYSTEM; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC VARIABILITY; GONAD; HUMAN; KARYOTYPE; MALE; PHENOTYPE; PRIORITY JOURNAL; SEX CHROMOSOME ABERRATION; SEX DIFFERENCE; SEX DIFFERENTIATION; SEXUAL DEVELOPMENT; Y CHROMOSOME;

ADOLESCENT; CHILD, PRESCHOOL; CHROMOSOMAL INSTABILITY; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, Y; FEMALE; GONADS; HUMANS; ISOCHROMOSOMES; KARYOTYPING; MALE; MOSAICISM; PHENOTYPE; SEX CHROMOSOME ABERRATIONS;

EID: 33745823910     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00654.x     Document Type: Article

References (29)

1. Hsu LY. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet 1994: 53: 108-140.
2. Daniel A, Lyons N, Casey JH, Gras L. Two dicentric Y isochromosomes, one without the Yqh heterochromatic segment: Review of the Y isochromosomes. Hum Genet 1980: 54: 31-39.
3. Therman ET, Trunca C, Kuhn EM, Sarto GE. Dicentric chromosomes and the inactivation of the centromere. Hum Genet 1986: 72: 191-195.
4. Kohn B, Kleyman SM, Conte RA et al. Characterization of an isodicentric Y-chromosome for the long arm in a newborn with mixed gonadal dysgenesis. Ann Genet 1997: 40: 10-13.
5. Bouayed Abdelmoula N, Amouri A. Les chromosomes Y dicentriques. Première partie: Les aspects cytogénétiques et moléculaires. Ann Biol Clin 2005: 63: 263-278.
6. Alvarez-Nava F, Soto M, Martinez MC et al. FISH and PCR analyses in three patients with 45,X/46,X, idic(Y) karyotype: Clinical and pathologic spectrum. Ann Genet 2003: 46: 443-448.
7. Bouayed Abdelmoula N, Amouri A. Les chromosomes Y dicentriques. Deuxième partie: Corrélation phénotype - Génotype. Ann Biol Clin 2005: 63: 363-375.
8. Tuck-Muller CM, Chen H, Martinez JE et al. Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature. Hum Genet 1995: 96: 119-129.
9. Robboy SJ, Bentley RC, Russell P, Anderson MC. Embryology and disorders of sexual development. In: Robboy SJ, Anderson MC, Russell P, eds. Pathology of the female reproductive tract. London, UK: Churchill Livingstone, 2002: 819-860.
10. Lemieux N, Dutrillaux B, Viegas-Pequignot E. A simple method for simultaneous R- or G-banding and fluorescence in situ hybridization of small single-copy genes. Cytogenet Cell Genet 1992: 59: 311-312.
11. Lemieux N, Drouin R, Richer CL. High-resolution dynamic and morphological G-bandings (GBG and GTG): A comparative study. Hum Genet 1990: 85: 261-266.
12. Dutrillaux B, Couturier J. La pratique de l'analyse chromosomique. Paris, France: Mason, 1981.
13. Rooney DE, Szepulkowski BH. Prenatal diagnosis and tissue culture. In: Rooney DE, Szepulkowski BH, eds. Human cytogenetics: A practical approach, Vol. 1 constitutional analysis. New York: Oxford University Press, 1992: 55-89.
14. Kuchinka BD, Kalousek DK, Lomax BL et al. Interphase cytogenetic analysis of single cell suspensions prepared from previously formalin-fixed and paraffin-embedded tissues. Mod Pathol 1995: 8: 183-186.
15. Shaffer LG, Tommerup N, eds. ISCN 2005. An international system for human cytogenetic nomenclature. Basel, Switzerland: S Karger, 2005.
16. Tyler-Smith C, Taylor L, Muller U. Structure of a hypervariable tandemly repeated DNA sequence on the short arm of the human Y chromosome. J Mol Biol 1988: 203: 837-848.
17. Ying KL, Ives EJ. Mitotic behavior of a human dicentric Y chromosome. Cytogenetics 1971: 10: 208-218.
18. Chandley AC, Ambros P, McBeath S et al. Short arm dicentric Y chromosome with associated statural defects in a sterile man. Hum Genet 1986: 73: 350-353.
19. Stankiewicz P, Helias-Rodzewicz Z, Jakubow-Durska K et al. Cytogenetic and molecular characterization of two isodicentric Y chromosomes. Am J Med Genet 2001: 101: 20-25.
20. Kohler MR, Vogt PH. Interstitial deletions of repetitive DNA blocks in dicentric human Y chromosomes. Chromosoma 1994: 103: 324-330.
21. Genuardi M, Bardoni B, Floridia G et al. Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal. Clin Genet 1995: 47: 38-41.
22. Robinson DO, Dalton P, Jacobs PA et al. A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome. J Med Genet 1999: 36: 279-284.
23. Fernandez R, Marchal JA, Sanchez A, Pasaro E. A point mutation, R59G, within the HMG-SRY box in a female 45,X/46,X, psu dic(Y)(pter->q11:q11->pter). Hum Genet 2002: 111: 242-246.
24. Udler Y, Kauschansky A, Yeshaya J et al. Phenotypic expression of tissue mosaicism in a 45,X/46,X, dicY(q11.2) female. Am J Med Genet 2001: 102: 318-323.
25. Verp M, Simpson J. Abnormal sexual differentiation and neoplasia. Cancer Genet Cytogenet 1987: 25: 191-218.
26. Page DC. Hypothesis: A Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads. Development 1987: 101: 151-155.
27. Lau YF, Lau HW, Komuves LG. Expression pattern of a gonadoblastoma candidate gene suggests a role of the Y chromosome in prostate cancer. Cytogenet Genome Res 2003: 101: 250-260.
28. Tsuchiya K, Reijo R, Page DC, Disteche CM. Gonadoblastoma: Molecular definition of the susceptibility region on the Y chromosome. Am J Hum Genet 1995: 57: 1400-1407.
29. Rottger S, Yen PH, Schempp W. A fiber-FISH contig spanning the non-recombining region of the human Y chromosome. Chromosome Res 2002: 10: 621-635.