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Chromosome Y

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Human Chromosome Variation: Heteromorphism and Polymorphism

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Abstract

It was recognized early that the Y chromosome varied greatly in length (Figs. 29.1, 29.2) in normal, fertile men (Cohen et al., Cytogenetics 5(1):34–52, 1966; El-Alfi, J Med Genet 7:37–40, 1970; Makino and Muramoto, Proc Jap Acad 40:757–761, 1964; Bishop et al., Cytogenetics 5:34–52, 1962). Variations in length of the Q-bright fluorescent segment of the long arm were quickly shown to account for most of the size differences (Bobrow et al., Cytogenetics 10:190–198, 1971; Laberge and Gagne, John Hopkins Med J 128:79–83, 1971; Schnedl, Humangenetik 12:188–194, 1971). In large Ys, the distal Q-bright region is often composed of two fluorescent bands that are especially visible in prophase (Sperling and Lackman, Clin Genet 2:352–355, 1971; Kim et al., Humangenetik 13:238–240, 1971). In very small Ys, the Q-bright region may be greatly diminished in size or even absent (Borgoankar, Lancet 15:1017, 1971; Wahlstrom, Hereditas 69:125–128, 1971). Other variant forms of the Y in normal males include pericentric inversions and satellited Ys.

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Notes

  1. 1.

    The significance of XYY and Y duplications in autism and other psyosociol behavior problems is still a controversial topic, outside the scope of this review.

References

  1. Cohen MM, Shaw MW, MacCluer JW (1966) Racial differences in the length of the human Y chromosome. Cytogenetics 5(1):34–52

    Article  PubMed  CAS  Google Scholar 

  2. El-Alfi O (1970) A family with a large Y chromosome. J Med Genet 7:37–40

    Article  PubMed  CAS  Google Scholar 

  3. Makino S, Muramoto T (1964) Some observations on the variability of the human Y chromosome. Proc Jap Acad 40:757–761

    Google Scholar 

  4. Bishop A, Blank CE, Hunter H (1962) Heritable variation in the length of the Y chromosome. Cytogenetics 5:34–52

    Google Scholar 

  5. Bobrow M, Pearson PL, Pike MC, El-Alfi OS (1971) Length variations in the quinacrine-binding segment of human Y chromosomes of different sizes. Cytogenetics 10:190–198

    Article  PubMed  CAS  Google Scholar 

  6. Laberge C, Gagne R (1971) Quinacrine mustard staining solve the length variations of the human Y chromosome. John Hopkins Med J 128:79–83

    CAS  Google Scholar 

  7. Schnedl W (1971) Fluoreszenzuntersuchugen uber die angenvariabiliatat des Y-Chromosoms beim Menschen. Humangenetik 12:188–194

    Article  PubMed  CAS  Google Scholar 

  8. Sperling K, Lackman I (1971) Large human Y chromosome with two fluorescent bands. Clin Genet 2:352–355

    Article  PubMed  CAS  Google Scholar 

  9. Kim MA, Bier L, Pawlowitzki IH, Pfeiffer RA (1971) Human Y chromosome with two fluorescing bands after staining with quinacrine derivates. Humangenetik 13:238–240

    Article  PubMed  CAS  Google Scholar 

  10. Borgoankar DS (1971) Non-fluorescent Y chromosome. Lancet 15:1017

    Article  Google Scholar 

  11. Wahlstrom J (1971) Are variations in length of Y chromosome due to structural changes. Hereditas 69:125–128

    Article  Google Scholar 

  12. Nielsen J (1978) Large Y chromosome (Yq+) and increased risk of abortion. Clin Genet 13:415–416

    Article  PubMed  CAS  Google Scholar 

  13. Nielsen J, Friedrich U (1972) Length of the Y chromosome in criminal males. Clin Genet 3:281–285

    Article  PubMed  CAS  Google Scholar 

  14. Patil SR, Lubs HA (1977) A possible association of long Y chromosomes and fetal loss. Hum Genet 35:233–235

    Article  PubMed  CAS  Google Scholar 

  15. Genest P (1979) Chromosome variants and abnormalities in 51 married couples with repeated spontaneous abortions. Clin Genet 16(6):387–389

    Article  PubMed  CAS  Google Scholar 

  16. Tishler PV, Lamborot-Manzur M, Atkins L (1972) Polymorphism of the human Y chromosome: fluorescence microscopic studies on the sites of morphologic variation. Clin Genet 3:116–122

    Article  PubMed  CAS  Google Scholar 

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

    Article  CAS  Google Scholar 

  18. Ghosh PK, Singh IP (1975) Morphological variability of the human chromosomes in two Indian populations—Rajputs and Punjabs. Humangenetik 29(1):67–78

    Article  PubMed  CAS  Google Scholar 

  19. Verma RS, Evans-McCalla M, Dosik H (1982) Human chromosomal heteromorphism in American Blacks. VI. Higher incidence of longer Y owing to non-fluorescent (nf) segment. J Med Genet 19:297–301

    Article  PubMed  CAS  Google Scholar 

  20. Verma RS, Huq A, Dosik H (1983) Racial variation of a non-fluorescent segment of the Y chromosome in East Indians. J Med Genet 20:102–106

    Article  PubMed  CAS  Google Scholar 

  21. 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

    Article  PubMed  CAS  Google Scholar 

  22. Hsu LYF, Benn PA, Tannenbaum HL, Perlis TE, Carlson AD (1987) Chromosome polymorphism of 1, 9 16 and Y in 4 major ethnic groups: a large prenatal study. Am J Med Genet 26:95–101

    Google Scholar 

  23. Hou JW, Wang TR (1999) Study of human Y chromosome polymorphism in Taiwan. Acta Paediatr Twaiwan 40:302–304

    CAS  Google Scholar 

  24. Soudek D, Laraya P (1974) Longer Y chromosome in criminals. Clin Genet 6:225–229

    Article  PubMed  CAS  Google Scholar 

  25. Shapiro LR, Pettersen RO, Wilmot PL, Warburton D, Benn PA, Hsu LYF (1984) Pericentric inversion of the Y chromosome and prenatal diagnosis. Prenat Diagn 4:463–465

    Article  PubMed  CAS  Google Scholar 

  26. Maeda T, Ohno M, Matsunobu A, Yoshihara K, Yabe N (1991) Cytogenetic survey of 14,835 consecutive liveborns. Jinrui Idengaku Zasshi 36:117–129

    Article  PubMed  CAS  Google Scholar 

  27. Bernstein R, Wadee A, Rosendorff J, Wessels A, Jenkins T (1986) Inverted Y chromosome polymorphism in the Gujarati Muslim Indian population of South Africa. Hum Genet 74:223–229

    Article  PubMed  CAS  Google Scholar 

  28. Spurdle A, Jenkins T (1992) The inverted Y chromosome polymorphism in the Gujarati Muslim Indian population of South Africa has a single origin. Hum Hered 42:330–332

    Article  PubMed  CAS  Google Scholar 

  29. Tomomasa H, Adachi Y, Iwabuchi M, Oshio S, Umeda T, Lino Y, Takano T, Nakahori Y (2000) Pericentric inversion of the Y chromosome of an infertile male. Arch Androl 45:181–185

    Article  PubMed  CAS  Google Scholar 

  30. Giltay JC, van Golde RJ, Kastrop PM (2000) Analysis of spermatozoa from seven ICSI males with constitutional sex chromosomal abnormalities by fluorescence in situ hybridization. J Assist Reprod Genet 17:151–155

    Article  PubMed  CAS  Google Scholar 

  31. Causio F, Canale D, Schonauer LM, Fischetto R, Leonetti T, Archidiacono N (2000) Breakpoint of a Y chromosome pericentric inversion in the DAZ gene area. A case report. J Reprod Med 45:591–594

    PubMed  CAS  Google Scholar 

  32. Acar H, Cora T, Erkul I (1999) Coexistence of inverted Y, chromosome 15p+ and abnormal phenotype. Genet Couns 10:163–170

    PubMed  CAS  Google Scholar 

  33. Motos GMA (1989) Pericentric inversion of the human Y chromosome. An Esp Pediatr 31:583–587

    Google Scholar 

  34. Toth A, Gaal M, Laszlo J (1984) Familial pericentric inversion of the Y chromosome. Ann Genet 27:60–61

    PubMed  CAS  Google Scholar 

  35. Rivera H, Vassquez AI, Ayala-Madrigal ML, Ramirez-Duenas ML, Davalos IP (1996) Alphoidless centromere of a familial unstable inverted Y chromosome. Ann Genet 39:236–239

    PubMed  CAS  Google Scholar 

  36. Warburton PE (2004) Chromosomal dynamics of human neocentromere formation. Chromosome Res 12:617–626

    Article  PubMed  CAS  Google Scholar 

  37. Genest P, Bouchard M, Bouchard J (1967) A satellited human Y chromosome: an evidence of autosome gonosome translocation. Canad J Genet Cytol 9:589–595

    PubMed  CAS  Google Scholar 

  38. Schmid M, Haaf T, Solleder E, Schempp W, Leipoldt M, Heilbronner H (1984) Satellited Y chromosomes: structure, origin, and clinical significance. Hum Genet 67:72–85

    Article  PubMed  CAS  Google Scholar 

  39. Genest P (1978) A satellited Y chromosome. [In French]. Ann Genet 21:237–238

    Google Scholar 

  40. Genest P (1979) Remarks on a satellited Y chromosome. [In French]. Sem Hop 55:799–80

    Google Scholar 

  41. Genest P, Laberge C, Poty J, Gagne R, Bouchard M (1970) Transmission d’un petit “Y” durant onze generation dans une lignee familiale [In French]. Ann Genet (Paris) 13:233–238

    CAS  Google Scholar 

  42. Howard-Peebles PN, Stoddard GR (1976) A satellited Yq chromosome associated with trisomy 21 and an inversion of chromosome 9. Hum Genet 34:223–225

    Article  PubMed  CAS  Google Scholar 

  43. Bayless-Underwood L, Cho S, Ward B, Robinson A (1983) Two cases of prenatal diagnosis of a satellited Yq chromosome. Clin Genet 24:359–364

    Article  PubMed  CAS  Google Scholar 

  44. Turleau C, Chavin-Colin F, Seger J, Sorin M, Salet D, de Grouche J (1978) Satellited Y chromosome (Yqs) and nucleolar organizer occuring de novo. Ann Genet 21:239–242

    PubMed  CAS  Google Scholar 

  45. Verma RS, Gogineni SK, Kleyman SM, Conte RA (1997) Characterization of a satellited non-fluorescent Y chromosome (Y[nfqs]) by FISH. J Med Genet 34:817–818

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Boston University School of Medicine Center for Human Genetics, Boston, Massachusetts, USA

    Dr. Herman E. Wyandt

  2. Acupath Laboratories, Inc., 28 South Terminal Drive, 11803, Plainview, New York, USA

    Dr. Herman E. Wyandt

  3. Department of Pediatrics, Texas Tech University Health Science Center, 4th Street 3601, 79416, Lubbock, Texas, USA

    Dr. Vijay S. Tonk

Authors
  1. Dr. Herman E. Wyandt
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  2. Dr. Vijay S. Tonk
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Correspondence to Herman E. Wyandt or Vijay S. Tonk .

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Wyandt, H.E., Tonk, V.S. (2011). Chromosome Y. In: Human Chromosome Variation: Heteromorphism and Polymorphism. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-0896-9_29

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