Summary
Chromosomal analysis in a child with ambiguous sex showed mosaicism of at least two cell lines with one or more marker chromosomes or none at all. They were shown to be derived from the Y chromosome by fluorescent in situ hybridisation (FISH) using different DNA probes that cover parts of the long and the short arm.
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Beverstock GC, Macfarlane JD, Veenema H, Hoekman H, Goodfellow PJ (1989) Y chromosome specific probes identify breakpoint in a 45/46,X,del(Y) (pter-q11.1) karyotype of an infertile male. J Med Genet 26:330–342
Bühler E (1980) A synopsis of the human Y chromosome. Hum Genet 55:145–175
Crolla JA, Smith M, Docherty Z (1989) Identification and characterisation of a small marker chromosome using non-isotopic in situ hybridisation with X and Y specific probes. J Med Genet26:192–194
Distèche C Luthy D, Haslam DB, Hoar D (1984) Prenatal identification of a deleted Y chromosome by cytogenetics and a Y-specific repetitive DNA probe. Hum Genet 67:222–224
Fryns JP, Cassiman JJ, van den Berghe H (1978) Unusual in vivo rearrangements of the Y chromosome with mitotic instability in vitro. Hum Genet 44:349–355
Fryns JP, Kleczkowska A, van den Berghe H (1985) Clinical manifestations of the Y chromosome deletions in man. In: The Y chromosome, part B. AR Liss, New York, pp 151–179
Geard CR (1974) Ring chromosomes and sister chromatid exchange. In: Tice RR, Hollaender (eds) Sister chromatid exchanges, Plenum Press, New York, London, pp 91–101
Knudtzon J, Aarskog D (1987) 45,X/46,XY mosaicism. A clinical review and report of ten cases. Eur J Pediatr 146:266–271
Kosztolányi G (1988) Giemsa-11 technique elucidating three structurally altered nonfluorescent Y chromosomes: r(Y), idic(Yp), dir tan dup (Yp) Ann Genet 31:235–240
Kozma R, Fear C, Adinolfi M (1988) Fluorescence in situ hybridization and Y ring chromosome. Hum Genet 80:95–96
Lichter P, Cremer T, Borden J, Manuelidis L, Ward DC (1988) Delineation of individual human chromosomes in metaphase or interphase cells by in situ suppression hybridisation using recombinant DNA libraries. Hum Genet 80:224–234
Mascarello JTM, Jones MC, Chambers SR (1987) A patient with extreme variation in number and size of small marker chromosomes. Hum Genet 75:191–194
Mattei JF, Mattei MG, Lucas C, Giraud F (1979) Les anomalies de structure du chromosome Y, à propos de 10 observations. J Genét Hum 27:53–55
Miro R, Caballin MR, Coll MD, Marina S, Egozcue J (1982) An XX male with a 46,XX/47,XX,+Y(q12-qter)karyotype. Hum Genet 60:82–84
Pohlschmidt M, Rappold G, Krause M, Ahlert D, Hosenfeld D, Weissenbach J, Gal A (1991) Ring Y chromosome: molecular characterization by DNA probes. Cytogenet Cell Genet 56:65–68
Rosenberg C, Frota-Pessoa O, Vianna-Morgante AM, Chu TH (1987) Phenotypic spectrum of 45,X/46,XY individuals. Am J Med Genet 27:553–559
Ruthner U, Golob E (1974) 45,X/45,X,ace(?Yp)/46,X,r(Y) in a phenotypically normal newborn male. Humangenetik 22:177–80
Surana RB, Forbath P, Conen PE (1971) Minute Y chromosome. Ann Genet 14:145–148
Taillemite JL, van den Akker J, Portmo MF, Le Porrier N, Roux Ch (1978) Mosaique 45,X/46,XY avec Y petit et non fluorescent. Ann Genet 21:116–119
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Diekmann, L., Palm, K., Pfeiffer, R.A. et al. Multiple minute marker chromosomes derived from Y identified by FISH in an intersexual infant. Hum Genet 90, 181–183 (1992). https://doi.org/10.1007/BF00210772
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DOI: https://doi.org/10.1007/BF00210772