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Identification and characterization of normal length nonfluorescent Y chromosomes: cytogenetic analysis, Southern hybridization and non-isotopic in situ hybridization

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Summary

In two female patients with a 45,X/46,X,+mar karyotype the marker chromosomes were identified as normal length nonfluorescent Y chromosomes (nlYnf) using non-isotopic in situ hybridization (NISH) complementary to routine cytogenetic analysis and Southern hybridization. The recognition of the nlYnf as isodicentric in both patients illustrates and confirms the usefulness and importance of NISH in the identification and characterization of this and many other types of complex chromosome rearrangements.

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References

  • Almeida JC, Llerena JC Jr, Gomes DM, Martins RR, Jung M, Reis DF, Cunha AG (1985) G-11 staining in Turner's syndrome with mos 45,X/46,X,r(?). Ann Génét (Paris) 28:37–41

    Google Scholar 

  • Almeida JCC, Llerena JC Jr, Jung M, Martins RR, Gomes DM, Reis DF, Cunha AG (1986) Combined cytogenetic techniques and non-fluorescent Y. Cytologic evidence of dic (Yp)(q11) in a previously interpreted 46,X,Yq. Ann Génét (Paris) 29:114–118

    Google Scholar 

  • Bühler EM (1980) A synopsis of the human Y chromosome. Hum Genet 55:145–175

    Google Scholar 

  • Bühler EM, Bühler UK, Tsuchimoto T, Stalder GR (1974) Non-fluorescent Y chromosome. Helv Paediatr Acta 29:447–456

    Google Scholar 

  • Burgoyne PS, Buehr M, Koopman P, Rossant J, McLaren A (1988) Cell-autonomous action of the testis-determining gene: Sortoli cells are exclusively XY in XX-XY chimaeric mouse testis. Development 10:443–450

    Google Scholar 

  • Callen DF, Eyre HJ, Ringenbergs ML (1990) A dicentric variant of chromosome 6:characterization by the use of in situ hybridization with the biotinylated probe p308. Clin Genet 37:81–83

    Google Scholar 

  • Camargo M, Cervenka J (1984) DNA replication and inactivation patterns in structural abnormality of sex chromosomes. I. X-A translocations, rings, fragments, isochromosomes, and pseudoisodicentrics. Hum Genet 67:37–47

    Google Scholar 

  • Caspersson T, Hulten M, Jonasson J, Lindsten J, Therkelsen A, Zech L (1971) Translocation causing non-fluorescent Y chromosomes in human XO/XY mosaics. Hereditas 68:317–324

    Google Scholar 

  • Cooke HJ, Schmidtke J, Gosden JR (1982) Characterization of a human Y chromosome repeated sequence and related sequences in higher primates. Chromosoma 87:491–502

    Google Scholar 

  • Cremer T, Landegent J, Bruckner A, Scholl HP, Schardin M, Hager HD, Devilee P, Pearson P (1986) Detection of chromosome aberrations in the human interphase nucleus by visualization of specific target DNAs with radioactive and non-radioactive in situ hybrization techniques: diagnosis of trisomy 18 with probe L1.84. Hum Genet 74:346–352

    Google Scholar 

  • Crolla JA, Llerena JC Jr (1988) A mosaic 45,X/46,X,r(?) karyotype investigated with \sX and Y centromere-specific probes using a non-autoradiographic in situ hybridisation technique. Hum Genet 81:81–84

    Google Scholar 

  • Crolla JA, Smith M, Docherty Z (1988) Identification and characterisation of a small marker chromosome using non-isotopic in situ hybridisation with \sX and Y-specific probes. J Med Genet 26:192–194

    Google Scholar 

  • Daniel A, Lyons N, Casey JH, Gras L (1980) Two dicentric Y isochromosomes, one without the Yqh heterochromatic segment. Hum Genet 54:31–39

    Google Scholar 

  • Dekken H van, Baumann JGJ (1989) A new application of in situ hybridization: detection of numerical and structural chromosomal aberrations with a combination centromeric telomeric DNA-probe. Cytogenet Cell Genet 48:188–189

    Google Scholar 

  • Donlon TA, Magenis RE (1980) The non-fluorescent Y chromosome. Am J Hum Genet 32:68A

    Google Scholar 

  • Fonatsch C, Flatz SD, Freymann R (1977) Non-fluorescent Y chromosome in a male infant with Turner's symptoms and XO/XY mosaicism. Clin Genet 11:235–240

    Google Scholar 

  • Gaál M, Laszlo J, Bösze P (1978) 46,XY pure gonadal dysgenesis with non-fluorescent Y chromosome. Clin Genet 14:83–89

    Google Scholar 

  • Gänshirt D, Pawlowitzki IH (1984) HaeIII restriction of DNA from three cases with non-fluorescent Y chromosomes (45XO/ 46XYnf). Hum Genet 67:241–244

    Google Scholar 

  • Gänshirt-Ahlert D, Pawlowitzki IH, Gal A (1987) Three cases of 45,X/46,XYnf mosaicism. Molecular analysis revealed heterogeneity of the non-fluorescent Y chromosome. Hum Genet 76:153–156

    Google Scholar 

  • Gemmill RM, Pearce-Birge L, Bixenman H, Hecht BK, Allanson JE (1987) Y chromosome-specific DNA sequences in Turnersyndrome mosaicism. Am J Hum Genet 41:157–167

    Google Scholar 

  • Hsu LYF, Kim HJ, Paciuc S, Steinfeld L, Hirschhorn K (1974) Non-fluorescent and non-heterochromatic Y chromosome in 45,XO/46,XY mosaicism. Ann Génét (Paris) 17:5–9

    Google Scholar 

  • Kaluzewski B, Jakubowski L, Debieç-Rychter M, Grzeschik K-H, Limon J, Gibas Z (1988) Two mosaic cases with non-fluorescent Y chromosome analysed with Y-specific DNA probes. Am J Med Genet 31:489–503

    Google Scholar 

  • Kosztolányi G (1988) Giemsa-11 technique elucidating three structurally altered non-fluorescent Y chromosomes: r(Y), idic (Yp), dir tan dup (Yp). Ann Génét (Paris) 31:235–240

    Google Scholar 

  • Landegent JE, Jansen de Wal N, Fisser-Groen Y, Bakker E, Ploeg M van der, Pearson PL (1986) Fine mapping of the Huntington disease-linked D4S10 locus by non-radioactive in situ hybridization. Hum Genet 73:354–357

    Google Scholar 

  • Lau Y-F, Huang JC, Dozy AM, Kan Y-W (1984) A rapid screening test for antenatal sex determination. Lancet 1:14–16

    Google Scholar 

  • Lichter P, Cremer T, Chang-Tang C, Watkins PC, Manuelidis L, Ward DC (1988) Rapid detection of human chromosome 21 aberrations by in situ hybridization. Proc Natl Acad Sci USA 85:9664–9668

    Google Scholar 

  • Lo Curto F, Scappaticci S, Zuffardi O, Chierichetti G, Fraccaro M (1972) Non-fluorescent Y chromosome in a 45,XO/46,XY mosaic. Ann Génét (Paris) 15:107–110

    Google Scholar 

  • Lukusa T, Fryns JP, Van Den Berghe H (1986) Gonadoblastoma and Y chromosome fluorescence. Clin Genet 29:311–316

    Google Scholar 

  • Magenis E, Donlon T (1982) Non-fluorescent Y chromosomes. Cytologic evidence of origin. Hum Genet 60:133–138

    Google Scholar 

  • fnMagenis RE, Breg WR, Clark KA, Hook EB, Palmer CG, Pasztor LM, Summitt RL, Van Dyke D (1980) Distribution of sex chromosome complements in 651 patients with Turner's synrome. Am J Hum Genet 32:79A

  • Magenis RE, Luo XY, Allen LJ, Weissenbach J, Affara NA, Ferguson-Smith MA (1989) Localization of the pseudoautosomal locus DXYS20 and “TDF” to band p11. 3 of the Y chromosome. (10th International Workshop on Human Gene Mapping) Cytogenet Cell Genet 51:1037

    Google Scholar 

  • Müller G, Schempp W (1989) Mapping the human ZFX locus to Xp21.3 by in situ hybridisation. Hum Genet 82:82–84

    Google Scholar 

  • Müller U, Donlon TA, Kunkel SM, Lalande M, Latt SA (1987) Y-190, a DNA probe for the sensitive detection of Y-derived marker chromosome and mosaicism. Hum Genet 75:109–113

    Google Scholar 

  • Müncke M, Martinville B de, Lieber E, Francke U (1985) Minute chromosomes replacing the Y chromosome carry Y-specific sequences by restriction fragment analysis and in situ hybridization. Am J Hum Genet 22:361–374

    Google Scholar 

  • Nederlof PM, Robinson D, Abuknesha R, Wiegant J, Hopman AHN, Tanke HJ, Raap AK (1989a) Three-color fluorescence in situ hybridization for the simultaneous detection of multiple nucleic acid sequences. Cytometry 10:20–27

    Google Scholar 

  • Nederlof PM, Van der Flier S, Raap AK, Tanke HJ, Van der Ploeg M, Kornips F, Geraedts JPM (1989b) Detection of chromosome aberrations in interphase tumor nuclei by nonradioactive in situ hybridization. Cancer Genet Cytogenet 42:87–98

    Google Scholar 

  • Ngo KY, Vergnaud G, Johnsson C, Lucotte G, Weissenbach J (1986) A DNA probe detecting multiple haplotypes of the human Y chromosome. Am J Hum Genet 38:407–418

    Google Scholar 

  • Ostrer H, Henderson AL, Stringer LC (1987) Characterisation of Y chromosomal deoxyribonucleic acid fragments and translocations by Southern blot analysis. J Pediatr 111:678–683

    Google Scholar 

  • Page DC, Mosher R, Simpson EM, Fisher EMC, Mardon G, Pollack J, Mc Gillivray B, Chapelle A de la, Brown LG (1987) The sex-determing region of the human Y chromosome encodes a finger protein. Cell 51:1091–1094

    Google Scholar 

  • Quack B, Guérin P, Ruffié J, Lucotte G (1988) Mapping of probe p49f to the proximal part of the human Y chromosome long arm. Cytogenet Cell Genet 47:232

    Google Scholar 

  • Rønne M, Andersen O, Hansen SO (1985) Methotrexate-leucovorin synchronization of human lymphocyte cultures. Induction of high resolution R- and G-banding. Anticancer Res 4:357–360

    Google Scholar 

  • Sambrook J, Fritsch E, Maniatis T (1989) Molecular cloning: a laboratory manual, 2nd edn. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY

    Google Scholar 

  • Simpson JL (1976) Disorders of sexual differentiation. Academic Press, New York London, pp 184–189

    Google Scholar 

  • Simpson JL, Photopulos G (1976) The relationship of neoplasia to disorders of abnormal sexual differentiation. Birth Defects 12:15–50

    Google Scholar 

  • Stalvey JRD, Erickson RP (1987) An improved method for detecting Y chromosomal DNA. Hum Genet 76:240–243

    Google Scholar 

  • Willard HF, Smith KD, Sutherland J (1983) Isolation and characterization of a major tandem repeat family from the human×chromosome. Nucleic Acids Res 11:2017–2033

    Google Scholar 

  • Wisniewski L, Hirschhorn K (1982) Distamycin A-DAPI banding of non-fluorescent Y (Ynf) chromosomes in 45,X/46,XYnf mosaicism. Hum Genet 60:130–132

    Google Scholar 

  • Wolfe J, Darling SM, Erickson EP, Graig IW, Buckle VJ, Rigby PWJ, Willard HF, Goodfellow PN (1985) Isolation and characterisation of an alphoid centromeric repeat family from the human Y chromosome. J Mol Biol 182:477–485

    Google Scholar 

  • Wolman SR, David R, Koo G (1985) The “Y” chromosome in the female phenotype. In: Sandberg AA (ed) The Y chromosome, part A: Basic characteristics of the Y chromosome. Liss, New York, pp 477–505

    Google Scholar 

  • Yunis JJ (1976) High resolution human chromosomes. Science 191:1268–1270

    Google Scholar 

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Speleman, F., Van der Auwera, B., Mangelschots, K. et al. Identification and characterization of normal length nonfluorescent Y chromosomes: cytogenetic analysis, Southern hybridization and non-isotopic in situ hybridization. Hum Genet 85, 569–575 (1990). https://doi.org/10.1007/BF00193576

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  • DOI: https://doi.org/10.1007/BF00193576

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