Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner Syndrome

Lungeanu, A; Arghir, A; Arps, S; Cardos, G; Dumitriu, N; Budisteanu, M; Chirieac, S; Rodewald, A

doi:10.2478/v10034-008-0024-y

Abstract

Karyotype investigations using classical cytogenetics, fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) techniques were used for the characterization of Y chromosome structural anomalies found in two patients with ambiguous genitalia and features of Turner syndrome. Both exhibited mosaic karyotypes of peripheral blood lymphocytes. The karyotype was 45, X[90]/ 46, X, idic(Y)(p11.3).ish idic(Y) (wcpY+, DXYS130++,SRY++,DYZ3++,DYZ1++, DYS224++)[10] in one case, and the karyotype was 45, X[65]/46, X, idic(Y) (q11).ish idic(Y)(SRY++, RP11-140H23-)[35] in the other case. Derivative Y chromosomes were different in shape and size and positive for the SRY gene, a common underlying element of ambiguous genitalia phenotypes. These results add new information concerning the role of Y chromosome structural abnormalities in sex determination pathway perturbation which are poorly understood, and highlight the importance of the sex chromosomes integrity for a normal sex phenotype development.

References

Bettio D, Venci A, Rizzi N, Negri L, Setti PL. Clinical and molecular cytogenetic studies in three infertile patients with mosaic rearranged Y chromosomes. Hum Reprod 2006; 21(4): 972-975.10.1093/humrep/dei426
Search in Google Scholar
Hsu LYF. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet 1994; 53(2): 108-114.10.1002/ajmg.1320530204
Search in Google Scholar
Teraoka M, Narahara K, Yokoyama Y, Tsuji K, Kikkawa K, Ito S, Koyama K, Seino Y. 45, X/46, X, idic (Yq) mosaicism: clinical, cytogenetic, and molecular studies in four individuals. Am J Med Genet 1998; 78(5): 424-428.10.1002/(SICI)1096-8628(19980806)78:5<;424::AID-AJMG6>3.0.CO;2-L
Search in Google Scholar
Morava E, Hermann R, Czako M, Soltesz G, Kosztolanyi G. Isodicentric Y chromosome in an Ullrich-Turner patient without virilization. Am J Med Genet 2000; 91(2): 99-101.10.1002/(SICI)1096-8628(20000313)91:2<;99::AID-AJMG3>3.0.CO;2-C
Search in Google Scholar
Ostrer H, Clayton CM. Y chromosome mosaicism in 45, X Turner syndrome. Am J Med Genet 1989; 34(2): 294-296.10.1002/ajmg.1320340235
Search in Google Scholar
Jacobs P, Dalton P, James R, Mosse K, Power M, Robinson D, Skuse D. Turner syndrome: a cytogenetic and molecular study. Ann Hum Genet 1997; 61(Pt. 6): 471-483.10.1017/S0003480097006507
Search in Google Scholar
Tuck-Muller CM, Chen H, Martinez JE, Shen CLS Kusyk C, Batisa DAS, Bhatnagar YM, Dowling E, Wertelecki W. Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature. Hum Genet 1995; 96(1): 119-129.10.1007/BF00214200
Search in Google Scholar
Kelly TE, Franko JB, Rogol A, Golden WL. Discordant phenotypes and 45, X/46, X, idic(Y). J Med Genet 1998; 35(10): 862-864.10.1136/jmg.35.10.862
Search in Google Scholar
Robinson DO, Dalton P, Jacobs PA, Mosse K, Power MM, Skuse DH, Crolla JA. A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome. J Med Genet 1999; 36(4): 279-284.
Search in Google Scholar
Quilter CR, Taylor K, Conway GS, Nathwani N, Delhanty JDA. Cytogenetic and molecular investigations of Y chromosome sequences and their role in Turner syndrome. Ann Hum Genet 1998; 62(Pt. 2): 99-106.10.1046/j.1469-1809.1998.6220099.x
Search in Google Scholar
Godoy Assumpcao J, Hackel C, Marques-de-Faria AP, Palandi de Mello M. Molecular mapping of an idic (Yp) chromosome in an Ullrich-Turner patient. Am J Med Genet 2000; 91(2): 95-98.10.1002/(SICI)1096-8628(20000313)91:2<;95::AID-AJMG2>3.0.CO;2-J
Search in Google Scholar
Reddy KS, Sulcova V. Pathogenetics of 45, X/ 46, XY gonadal mosaicism. Cytogenet Cell Genet 1998; 82(1-2): 52-57.10.1159/0000150649763660
Search in Google Scholar
Jakubowski L, Jeziorowska A, Constantinou M, Kaluzewski B. Molecular analysis of Y chromosome long arm structural instability in patients with gonadal dysfunction. Clin Genet 2000; 57(4): 291-295.10.1034/j.1399-0004.2000.570408.x10845570
Search in Google Scholar
Stuppia L, Calabrese G, Franchi PG, Mingarelli R, Morizio E, Sabatino G, Palka G. Molecular studies in three patients with isodicentric Y chromosome. Hum Genet 1996; 98(6): 691-295.10.1007/s0043900502868931702
Search in Google Scholar
Simionescu A, Lungeanu A. Citogenetica Obstetricala in Epoca Postgenomica. Bucureşti: Editura Universitara "Carol Davila", 2005.
Search in Google Scholar
Shaffer LG, Tommerup N, eds. ISCN 2005: an international system for human cytogenetic nomenclature (2005): recommendations of the International Standing Committee on Human Cytogenetic Nomenclature. Basel: Karger; 2005.
Search in Google Scholar
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16(3): 1215.10.1093/nar/16.3.12153347653344216
Search in Google Scholar
Hummel S. Ancient DNA Typing. Methods, Strategies and Applications. Berlin: Springer. 2001; 159-217.10.1007/978-3-662-05050-7_7
Search in Google Scholar
Sambrook J, Russell DW. Molecular Cloning. A Laboratory Manual, 3rd ed. Cold Spring Harbor: Cold Spring Harbor Laboratory Press, 2001.
Search in Google Scholar
Siffroi JP, Le Bourhis C, Krausz C, Barbaux S, Quintana-Murci L, Kanafani S, Rouba H, Bujan L, Bourrouillou G, Seifer I, Boucher D, Fellous M, McElreavey K, Dadoune JP. Sex chromosome mosaicism in males carrying Y chromosome long arm deletions. Hum Reprod 2000; 15(12): 2559-2562.10.1093/humrep/15.12.255911098026
Search in Google Scholar
Quilter CR, Nathwani N, Conway GS, Stanhope R, Ralph D, Bahadur G, Serhal P, Taylor K, Delhanty JD. A comparative study between infertile males and patients with Turner syndrome to determine the influence of sex chromosome mosaicism and the breakpoints of structurally abnormal Y chromosomes on phenotypic sex. J Med Genet 2002; 39(12): e80.10.1136/jmg.39.12.e80175722612471218
Search in Google Scholar

Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner Syndrome

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