Dicentric Y chromosomes. First part: Cytogenetic and molecular aspects;Les chromosomes Y dicentriques. Première partie : Les aspects cytogénétiques et moléculaires

Annales de Biologie Clinique

Volumn 63, Issue 3, 2005, Pages 263-278

  Bouayed Abdelmoula, N ^a   Amouri, A ^b  

^a UNIVERSITY OF SFAX   (Tunisia)

^b PASTEUR INSTITUTE OF TUNIS   (Tunisia)

Author keywords

Dicentric y chromosomes; Gonadal dysgenesis; Infertility; Mosaicism; Turner syndrome

Indexed keywords

CHROMOSOME ANALYSIS; CLASSIFICATION; GENETICS; HUMAN; KARYOTYPING; MITOSIS; REVIEW; Y CHROMOSOME;

CHROMOSOMES, HUMAN, Y; CYTOGENETIC ANALYSIS; HUMANS; KARYOTYPING; MITOSIS;

EID: 20444475422     PISSN: 00033898     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (67)

1. Hsu LYF. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on strutural aberrations in postnatally diagnosed cases. Am J Med Genet 1994 ; 53 : 108.
2. Tuck-Muller CM, Chen H, Martinez JE, et al. Isodicentric Y chromosome : cytogenetic ; molecular and clinical studies and review of the literature. Hum Genet 1995 ; 96 : 119.
3. Quintana-Murci L, Fellous M. The human Y chromosome : the biological role of a functional wasteland. J Biomed Biotechnol 2001 ; 1 : 18.
4. Robinson DO, Dalton P, Jacobs PA, et al. A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome. J Med Genet 1999 ; 36 : 279.
5. Quilter CR, Nathwani N, Conway GS, et al. 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 : e80.
6. Jakubowski L, Jeziorowska A, Constantinou M, et al. Molecular analysis of Y chromosome long arm structural instability in patients with gonadal dysfunction. Clin Genet 2000 ; 57 : 291.
7. Kohn B, Kleyman SM, Conte RA, et al. Characterization of an isodicentric Y-chromosome for the long arm in a newborn with mixed gonadal dysgenesis. Ann Genet 1997 ; 40 : 10.
8. Kelly TE, Franko JB, Rogol A, et al. Discordant phenotypes and 45,X/46,X,idic(Y). J Med Genet 1998 ; 35 : 862.
9. Bagci G, Acar H, Tomruk H. Different chromosome Y abnormalities in Turner Syndrome. Genet Couns 2001 ; 12 : 255.
10. Fryns JP. Y-chromosome mosaicism with ring Y-chromosome/idic(Y) (p11.2) and normal ovarian development. Ann Genet 2001 ; 44 : 169.
11. Fryns JP, Kleczkowska A, Lemmens P, et al. Unusual in vivo rearrangements of the Y-chromosome in two males. Clin Genet 1987 ; 31 : 132.
12. Stuppia L, Guiseppe C, Franchi PG, et al. Molecular studies in three patients with isodicentric Y chromosome. Hum Genet 1996 ; 98 : 691.
13. Genuardi M, Bardoni B, Floridia G, et al. Dicentric chromosome Y associated with Leydig cell agenesis and sex reversal. Clin Genet 1995 ; 47 : 38.
14. Kojima Y, Hayashi Y, Yanai Y, et al. Molecular analysis of hypospadias in a boy with dicentric Y chromosome. J Urol 2001 ; 165 : 1244.
15. Udler Y, Kauschansky A, Yeshaya J, et al. Phenotypic expression of tissue mosaicism in a 45,X/46,X,dicY(q11.2) female. Am J Med Genet 2001 ; 102 : 318.
16. Hernando C, Carrera M, Ribas I, et al. Prenatal and postnatal characterization of Y chromosome structural anomalies by molecular cytogenetic analysis. Prenat Diagn 2002 ; 22 : 802.
17. De Almeida JCC, Lerena JC, Jung M, et al. Combined cytogenetic techniques and non-fluorescent Y : cytologic evidences of dic5Yp)(q11) in a previously interpreted 46,X,Yq-. Ann Genet 1986 ; 29 : 114.
18. Speleman F, Van der Auwera B, Mangelschots K, et al. Identification and characterisation of normal length non fluorescent Y chromosomes : cytogenetic analysis ; southern hybridization and non isotopic in situ hybridization. Hum Genet 1990 ; 85 : 569.
19. Hsieh YY, Lin WC, Chang CC, et al. Turner syndrome with pseudodicentric Y chromosome mosaicism. J Assist Reprod Genet 2002 ; 19 : 302.
20. Bukvic N, Susca F, Mattia G, et al. An unusual disenteric Y chromosome with a functional centromere with no detectable alpha satellite. Hum Genet 1996 ; 97 : 453.
21. Fetni R, Krabchi K, Messier PE, et al. Characterization by fluorescence and electron microscopy in situ hybridization of a double Y isochromosome. Am J Med Genet 1996 ; 63 : 454.
22. Fernandez R, Marchal JA, Sanchez A, et al. A point mutation, R596, within the HMG-SRY box in a female 45,X/46,X psu dic (Y)(pter-q11 : :q11-pter). Hum Genet 2002 ; 111 : 242.
23. Herva R, Saarinen I, Savikurki H, et al. Dicentric Y chromosome arising via tandem translocation. Am J Med Genet 1980 ; 7 : 115.
24. Fernandez-Garcia R, Garcia-Doval S, Costoya S, et al. Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome : a study of hidden mosaicism. Clin Genet 2000 ; 58 : 201.
25. Ponzio G, De Marchi M, Carbonara A, et al. Dicentric Y chromosome in a patient with gonadal dysgenesis and seminoma. Hum Genet 1981 ; 58 : 282.
26. Fox JE, Blumenthal D, Brock W, et al. Infant with Mos45,X/46,XY/47,XYY/ 48,XYYY. Genetic and clinical finding. Am J Med Genet 1995 ; 59 : 435.
27. Fernandez JL, Valverde D, Gosalvez J, et al. Chromosome fragments with alphoïd sequences derived from a pseudoisodicentric Y chromosome. J Med Genet 1996 ; 33 : 84.
28. Kirsch S, Weiss B, De Rosa M, et al. FISH deletion mapping defines a single location for the Y chromosome stature gene GCY. J Med Genet 2000 ; 37 : 593.
29. Gole LA, Anandakumar C, Yang R, et al. Discrepancy between cytogenetic and FISH results on an amniotic fluid sample of 45,X/46,X,idic(Y)(p11). Fetal Diagn Ther 2000 ; 15 : 212.
30. De Grouchy J, Turleau C. Atlas des maladies chromosomiques. Paris : Expansion scientifique, 1977.
31. Savary JB, Vasseur F, Flactif M, et al. Cytogenetic and molecular investigations of an abnormal Y chromosome : evidence for a pseudodicentric (Yq) isochromosome. Ann Genet 1992 ; 35 : 134.
32. Petrusevska R, Beudt U, Schafer D, et al. Distribution of Marker-Y chromosome containing cells in different tissues of a Turner mosaic patient with mixed gonadal dysgenesis. Clin Genet 1996 ; 49 : 261.
33. Schwartz S, Depinet TW, Leana-Cox J, et al. Sex chromosome markers : characterization using fluorescence in situ hybridization and review of the literature. Am J Med Genet 1997 ; 71 : 1.
34. Haaf T, Schmid M. Y isochromosome associated with a mosaic karyotype and inactivation of the centromere. Hum Genet 1990 ; 85 : 486.
35. Plauchu H, Magnin G, Laurent C, et al. Dysgénésie gonadique et chromosome Y dicentrique. J Gyn Obst Biol Repr 1981 ; 10 : 839.
36. Alvarez-Nava F, Soto M, Martinez MC, et al. FISH and PCR analyses in three patients with 45,X/46,X,idic(Y) karyotype : clinical and pathologic spectrum. Ann Genet 2003 ; 46 : 443.
37. Lindgren V, Chen CP, Bryke CR, et al. Cytogenetic and molecular characterization of marker chromosomes in patients with mosaic 45,X karyotypes. Hum Genet 1992 ; 88 : 393.
38. Macera MJ, Sherman J, Shah HO, et al. Identification of a non fluorescent isodicentric Y chromosome by molecular cytogenetic techniques. Clin Genet 1994 ; 46 : 364.
39. Patsalis PC, Hadjimarcou MI, Velissariou V, et al. Supernumerary marker chromosomes (SMCs) in turner syndrome are mostly derived from the Y chromosome. Clin Genet 1997 ; 51 : 184.
40. Cervantes A, Guevara-Yanez R, Lopez M, et al. PCR ; PRINS ; FISH analysis of structurally abnormal sex chromosome in eight patient with Turner phenotype. Clin Genet 2001 ; 60 : 385.
41. Chemes H, Muzulin PM, Venara MC, at al. Early manifestations of testicular dysgenesis in children : pathological phenotypes, karyotype correlations and precursor stages of tumour development. APMIS 2003 ; 111 : 12.
42. Fernandez R, Mendez J, Pasaro E. Turner syndrome : a study of chromosomal mosaicism. Hum Genet 1996 ; 98 : 29.
43. Jacobs P, Dalton P, James R, et al. Turner syndrome : a cytogenetic and molecular study. Ann Hum Genet 1997 ; 61 : 471.
44. Yorifuji T, Muroi J, Mamada M, et al. Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material. J Med Genet 2001 ; 38 : e41.
45. Giltay JC, Ausems MMG, Seumeren IV, et al. Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic study. Eur J Pediatr 2000 ; 160 : 154.
46. Jenderny J, Schmidt W, Held KR, et al. Presence of the AZF region in a female with an idic(Y)(q11). Clin Genet 1998 ; 54 : 341.
47. Quilter CR, Taylor K, Conway GS, et al. Cytogenetic and molecular investigations of Y chromosome sequences and their role in Turner syndrome. Ann Hum Genet 1998 ; 62 : 99.
48. Reddy KS, Sulcova V, Ho CK, et al. An infant with a mosaic 45,X/46,X,psu dic(Y) (pter-q11.2 : :q11.2-pter) karyotype and mixed gonadal dysgenesis studied for extent of mosaicism in the gonads. Am J Med Genet 1996 ; 66 : 441.
49. Assumpçao JG, Hackel, Marques-de-faria A, et al. Molecular mapping of an idic (Yp) chromosome in an Ullrich-Turner patient. Am J med Genet 2000 ; 91 : 95.
50. Yoshitsugu K, Meerabux JM, Asai K, et al. Fine mapping of an isodicentric Y chromosomal breakpoint from a schizophrenic patient. Am J Med Genet 2003 ; 116 : 27.
51. Adachi Y, Sasagawa I, Tomaru M, et al. Short-arm dicentric Y chromosome associated with Sertoli-cell-only tubule. Scand J Urol Nephrol 1997 ; 31 : 459.
52. Bergendi E, Plochl E, Vlasak I, et al. A Turner-like phenotype in a girl with an isodicentric fluorescent Y chromosome mosaïcism. Klin Padiatr 1997 ; 209 : 133.
53. Dundar M, Lowther G, Acar H, et al. A case of ambiguous genitalia presenting with a 45,X/46,Xr(Y)(p11.2 ;q11.23)/47,X,idic(Y)(p11.2), idic(Y)(p11.2) karyotype. Ann Genet 2001 ; 44 : 5.
54. Gibbons B, Tan SY, Yu CC, et al. Risk of gonadoblastoma in female patients with Y chromosome abnormalities and dysgenetic gonads. J Paediatr Child Health 1999 ; 35 : 210.
55. Gravholt CH, Fedder J, Naeraa RW, et al. Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material : a population study. J Clin Endocrinol 2000 ; 85 : 3199.
56. Konrad D, Sossai R, Winklehner HL, et al. Penoscrotal hypospadias and coarctation of the aorta with mixed gonadal dysgenesis. Pediatr Surg Int 2000 ; 16 : 226.
57. Morava E, Hermann R, Czako M, et al. Isodicentric Y chromosome in an Ullrich-Turner syndrome without virilization. Am J Med Genet 2000 ; 91 : 99.
58. Ogata T, Tomita K, Hida A, et al. Chromosomal localisation of a Y specific growth gene(s). J Med Genet 1995 ; 32 : 572.
59. Palka G, Calabres G, Mingarelli R, et al. Duplication Xp22.2 and pseudoisodicentric Yq detected by FISH ad PCR in a sterile male. Clin Genet 1995 ; 48 : 213.
60. Raff R, Schubert R, Schwanitz G, et al. Undescended testis and hypospadia in sex chromosomal aberrations. Klin Padiatr 1998 ; 210 : 400.
61. Sasagawa I, Ishigooka M, Kato T, et al. Dicentric Y chromosome without evidence of mosaicism in an azoospermic male. Scand J Urol Nephrol 1996 ; 30 : 75.
62. Shankman S, Spurdle AB, Morris D, et al. Presence of Y chromosome sequences and their effects on the phenotype of six patients with Y chromosomes anomalies. Am J Med Genet 1995 ; 55 : 269.
63. Shimoda N, Sato K, Satoh S, et al. Atypical true hermaphroditism with a mosaic 45,X/46,X,dic(Y)(q11.2) karyotype. J Urol 1998 ; 160 : 1434.
64. Smith YR, Stetten G, Charity L, et al. Ambiguous genitalia in an elderly woman with a mosaic 45,X/46,X,dic(Y) (q11.2) karyotype. Urology 1996 ; 47 : 259.
65. Teraoka M, Narahara K, Yokoyama Y, et al. 45,X/46,idic(Yq) mosaicism : clinical, cytogenetic, and molecular studies in four individuals. Am J Med Genet 1998 ; 78 : 424.
66. Tsuchiya K, Reijo R, Page DC, et al. Gonadoblastoma : molecular definition of the susceptibility region on the Y chromosome. Am J Hum Genet 1995 ; 57 : 1400.
67. Yoshida A, Nakahori Y, Kuroki Y. Dicentric Y chromosome in an azoospermic male. Mol Hum Repord 1997 ; 3 : 709.