Open Access

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

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/dei426Search 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.1320530204Search 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-LSearch 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-CSearch 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.1320340235Search 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/S0003480097006507Search 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/BF00214200Search 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.35.10.862Search 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.xSearch 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-JSearch in Google Scholar

Reddy KS, Sulcova V. Pathogenetics of 45, X/ 46, XY gonadal mosaicism. Cytogenet Cell Genet 1998; 82(1-2): 52-57.10.1159/0000150649763660Search 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.x10845570Search 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/s0043900502868931702Search 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/16.3.12153347653344216Search in Google Scholar

Hummel S. Ancient DNA Typing. Methods, Strategies and Applications. Berlin: Springer. 2001; 159-217.10.1007/978-3-662-05050-7_7Search 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/15.12.255911098026Search 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.e80175722612471218Search in Google Scholar

ISSN:
1311-0160
Language:
English
Publication timeframe:
2 times per year
Journal Subjects:
Medicine, Basic Medical Science, other