Skip to main content
SpringerLink
Log in

Nonfluorescent Y chromosomes. Cytologic evidence of origin

  • Original Investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

Twelve presumptive structurally altered Y chromosomes were studied with Q-, G-, G-11, C-, Cd, and lateral asymmetric banding techniques and were compared with normal X and Y chromosmes and with an abnormal [i(Yq)] Y chromosome that exhibited intact fluorescence. Significant to this work is the fact that the Y chromosome has a small block of Giemsa-11 heterochromatin adjacent to the centromere on the long arm, while the X chromosome does not, which allows a distinction between the X-and Y-derived chromosomes. Two of the twelve altered chromosomes of either X or Y origin are small nonfluorescent rings. Each ring has a G-11-positive band of heterochromatin at the centromere, confirming Y origin. Each of the normal-length nonfluorescent presumed Ys and a Y with a fluorescent band in the center have one G-11 band at the centromere and another at an equal distance from the end of the long arm, the bands also being Cd positive, indicating that these chromosomes are pseudodicentric. The likely mechanism of origin is a break at the distal bright heterochromatin/ euchromatin junction (or within the bright segment in the chromosome with the bright center band), fusion of the sister chromatids at the breakpoints, and loss of the distal segment.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Angell RR, Jacobs PA (1975) Lateral asymmetry in human constitutive heterochromatin. Chromosoma 51:301–310

    Google Scholar 

  • Arrighi FE, Hsu TC (1971) Localization of heterochromatin in human chromosomes. Cytogenetics 10:81–86

    Google Scholar 

  • Berger R, Relier JP, Salmon Ch, Minkowski A (1974) X/XY mosaicism with short Y. Clin Genet 5:211–217

    Google Scholar 

  • Bobrow M, Madan K, Pearson PL (1972) Staining of some specific regions of human chromosomes, particularly the secondary constriction of No. 9. Nature New Biol 238:122–124

    Google Scholar 

  • Borgaonkar DS, Hollander DH (1970) Quinacrine fluorescence of the human Y chromosome. Am J Hum Genet 22:23a

    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) Nonfluorescent Y chromosome. Helv Paediat Acta 29:447–456

    Google Scholar 

  • Caspersson T, Zech L, Johansson C, Modest EJ (1970) Identification of human chromosomes by DNA reacting fluorescing agents. Chromosoma 30:215–227

    Google Scholar 

  • Caspersson T, Hultén 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 

  • 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 

  • Donlon TA (1981) Cytologic characterization of human constitutive heterochromatin. Master of Science thesis, Portland State University

  • Eiberg H (1974) New selective technique for human chromosomes, Cd staining. Nature 248:55

    Google Scholar 

  • Ferguson-Smith MA (1965) Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J Med Genet 2:142–155

    Google Scholar 

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

    Google Scholar 

  • Fryns JP, Pederson JC, Goddeeris P, Berghe H van den (1980) Non-fluorescent Y chromosome in mixed gonadal dysgenesis with 45, X/46, XY mosaicism. Ann Genet 23:54–56

    Google Scholar 

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

    Google Scholar 

  • Gagné R, Laberge C (1972) Specific cytological recognition of the heterochromatic segment of number 9 chromosome in man. Exp Cell Res 73:239–242

    Google Scholar 

  • Genest P, Laberge C, Poty J, Gagné R, Bouchard M (1970) Transmission d'un petit Y durant onze générations dans une lignée familiale. Ann Génét 13:233–238

    Google Scholar 

  • German J (1970) Abnormalities of human sex chromosomes. V. A unifying concept in relation to gonadal dysgeneses. Clin Genet 1:15–27

    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 Genet (Paris) 17:5–9

    Google Scholar 

  • Isurugi K, Aso Y, Ishida H, Suzuki T, Kakizoe T, Motegi T, Nishi T Aoki H (1977) Prepubertal XY gonadal dysgenesis. Pediatrics 59: 569–573

    Google Scholar 

  • Kaluzewski B, Jokinen A, Hortling H, Chapelle A de la (1978) A theory explaining the abnormality in 45,X/46,XY mosaicism with non-fluorescent Y chromosome. Presentation of three cases. Ann Genet (Paris) 21:5–11

    Google Scholar 

  • Khudr G, Benirschke K (1973) Y ring chromosome associated with gonadoblastoma in situ. Obstet Gynecol 41:897–901

    Google Scholar 

  • Latt SA, Davidson RL, Lin MS, Gerald PS (1974) Lateral asymmetry in the fluorescence of human Y chromosomes stained with 33258 Hoechst. Exp Cell Res 87:425–429

    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 Genet (Paris) 15:107–110

    Google Scholar 

  • Madan K, Gooren L, Schoemaker J (1979) Three cases of sex chromosome mosaicism with a non-fluorescent Y. Hum Genet 46:295–304

    Google Scholar 

  • Magenis 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 syndrome. Am J Hum Genet 32:79A

  • Morillo-Cucci G, German J (1971) Abnormal Y chromosomes and monosomy 45,X: a concept derived from the study of three patients. Birth Defects (vol VII) 6:210–214

    Google Scholar 

  • Robinson JA, Buckton KE (1971) Quinacrine fluorescence of variant and abnormal human Y chromosomes. Chromosoma 35:342–352

    Google Scholar 

  • Scully RE (1970) Gonadoblastoma: a review of 74 cases. Cancer 25: 1340–1356

    Google Scholar 

  • Seabright M (1971) A rapid banding technique for human chromosomes. Lancet 2:971–972

    Google Scholar 

  • Simpson JL, Photopulos G (1976) The relationship of neoplasia to disorders of abnormal sexual differentiation. Birth Defects (vol XII) 1:15–50

    Google Scholar 

  • Stevenson AC, Bedford J, Barberton GM (1971) A patient with 45,X/ 46,XXq-46,XXq-dic karyotype. J Med Genet 8:513–516

    Google Scholar 

  • Teter J, Boczkowski K (1967) Occurrence of tumors in dysgenetic gonads. Cancer 20:1301–1310

    Google Scholar 

  • Taillemite JL, Akker J van den, Portnoi MF, Le Porrier N, Roux Ch (1978) Mosaique 45,X/46,XY avec Y petit et non fluorescent. Ann Génét 21:116–119

    Google Scholar 

  • Tiepolo L, Zuffardi O (1976) Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet 34:119–124

    Google Scholar 

  • Van Dyke DL, Weiss L (1980) Turner syndrome with a tiny ring chromosome: Is the ring derived from X or Y? Am J Hum Genet 32:91A

    Google Scholar 

  • Verma RS, Dosik H, Scharf T, Lubs HA (1978) Length heteromorphisms of fluorescent (f) and non-fluorescent (nf) segments of human Y chromosome: classification, frequencies, and incidence in normal Caucasians. J Med Genet 15:277–281

    Google Scholar 

  • Winters AJ, Benirschke K, Whalley P, MacDonald PC (1975) Mosaicism and lack of fluorescence of Y chromosome. Obstet Gynecol 46:367–370

    Google Scholar 

  • Wyandt HE, Wysham DG, Minden SK, Anderson RS, Hecht F (1976) Mechanisms of Giemsa banding of chromosomes. I. Giemsa-11 banding with azure and eosin. Exp Cell Res 102:85–94

    Google Scholar 

  • Yanagisawa S (1980) Structural abnormalities of the Y chromosome and abnormal external genitals. Hum Genet 53:183–188

    Google Scholar 

  • Yunis E, Garcia-Conti FL, Torres de Caballero OM, Giraldo A (1977) Yq deletion, aspermia and short stature. Hum Genet 39:117–122

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Child Development and Rehabilitation Center, Oregon Health Sciences University, 707 SW Gaines Road, 97201, Portland, OR, USA

    Ellen Magenis & Timothy Donlon

Authors
  1. Ellen Magenis
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Timothy Donlon
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Magenis, E., Donlon, T. Nonfluorescent Y chromosomes. Cytologic evidence of origin. Hum Genet 60, 133–138 (1982). https://doi.org/10.1007/BF00569699

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00569699

Keywords

Search

Navigation