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PMID: 7190126 Published · ppublish English Journal Article

Two dicentric Y isochromosomes, one without and the Yqh heterochromatic segment: review of the Y isochromosomes.

Human genetics ·Vol. 54 ·No. 1 ·1980-00-00 ·Pages 31-9

Daniel A, Lyons N, Casey JH, Gras L

Abstract

Two women with primary amenorrhoea and few other stigmata of Turner's syndrome were found to be chromosome mosaics: 45,X/46,X,idic(Y). In Case 1, the dicentric isochromosome Y was found to have a long-arm breakpoint of formation. This structure was interpreted as containing two Y short arms and centromeres separated by a region derived from the proximal Y long arm. One of the centromeres in the Case 1--idic(Y) was suppressed in 80% of cells in blood, and in these cells it appeared as a regular Y-shaped chromosome. In Case 2 the idic(Y) was derived by a short-arm breakpoint of formation. In all the dicentrics of this case with one primary constriction (functional monocentrics) there was a single Cd band. In the 10% of dicentrics with two primary constrictions, there were two Cd bands. It is argued that the instability of sex isochromosomes is due to this functional dicentricity in some cells. These cases are compared with 42 other Y isochromosomes with various short- and long-arm breakpoints of formation. It is suggested that some of the nonheterochromatic, nonfluorescent Y chromosomes previously reported may be explained as dicentric i(Y) with proximal long-arm breakpoints of formation and one suppressed centromere.

MeSH Terms
Adolescent Adult Chromosome Banding Female Heterochromatin/ultrastructure Humans Karyotyping Male Mosaicism Sex Chromosomes/ultrastructure Turner Syndrome/genetics Y Chromosome/ultrastructure
Chemicals
Heterochromatin
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Daniel A
Lyons N
Casey J H
Gras L
References (55)
55 references, click to expand
  1. A Transmissible Dicentric Chromosome.
    Genetics. 1952 Mar;37(2):125-35 PMID: 17247381
  2. 45,XO/46,XYg dic mosaicism in a patient with ambiguous genitalia.
    Clin Genet. 1976 Mar;9(3):365-70 PMID: 1261075
  3. Turner's syndrome and 46,X,i(Yq) karyotype.
    J Med Genet. 1974 Dec;11(4):403-6 PMID: 4443992
  4. [A case of dicentric Y in a male pseudohermaphrodite with complex gonosomal mosaicism].
    Ann Genet. 1969 Dec;12(4):253-8 PMID: 5309417
  5. X-XY mosaicism with short y.
    Clin Genet. 1974;5(3):211-7 PMID: 4134782
  6. Isochromosome for long arm of Y chromosome in patient with Turner's syndrome and sex chromosome mosaicism (45,X-46,XYqi).
    J Med Genet. 1969 Dec;6(4):422-5 PMID: 5365951
  7. [Male pseudohermaphroditism and mosaicism 45,X-46,XYdic-46,XXq-].
    Ann Genet. 1968 Mar;11(1):62-5 PMID: 5301760
  8. Isochromosome-X in man. I.
    Hereditas. 1966;54(3):260-76 PMID: 6001835
  9. Structure and inheritance of some heterozygous Robertsonian translocation in man.
    J Med Genet. 1976 Oct;13(5):381-8 PMID: 1003449
  10. Non-fluorescent Y chromosome in a 45,X-46,XY mosaic.
    Ann Genet. 1972 Jun;15(2):107-10 PMID: 4537721
  11. Autoimmunity in gonadal dysgenesis and Klinefelter's syndrome.
    Lancet. 1967 Mar 25;1(7491):648-51 PMID: 4163925
  12. Non-fluorescent Y chromosome in a male infant with Turner's symptoms and XO/XY mosaicism.
    Clin Genet. 1977 Mar;11(3):235-40 PMID: 65235
  13. Non-fluorescent and non-heterochromatic Y chromosome in 45, X 46,XY mosaicism.
    Ann Genet. 1974 Mar;17(1):5-9 PMID: 4546340
  14. Quinacrine fluorescence of variant and abnormal human Y chromosomes.
    Chromosoma. 1971;35(3):342-52 PMID: 5133546
  15. Mitotic behavior of a human dicentric Y chromosome.
    Cytogenetics. 1971;10(3):208-18 PMID: 5156695
  16. Single Cd band in dicentric translocations with one suppressed centromere.
    Hum Genet. 1979 Apr 17;48(1):85-92 PMID: 457138
  17. A mitotically unstable human dicentric Y chromosome in a male pseudohermaphrodite.
    Cytogenet Cell Genet. 1976;17(1):42-50 PMID: 949907
  18. A patient with 45,X-46,XXq--46,XXq-dic karyotype.
    J Med Genet. 1971 Dec;8(4):513-6 PMID: 5149536
  19. Abnormal Y chromosomes and monosomy 45,X: a concept derived from the study of three patients.
    Birth Defects Orig Artic Ser. 1971 May;7(6):210-4 PMID: 5173164
  20. Occurrence of tumors in dysgenetic gonads.
    Cancer. 1967 Aug;20(8):1301-10 PMID: 4291636
  21. Dicentric Y chromosome in mixed gonadal dysgenesis.
    J Med Genet. 1975 Jun;12(2):210-2 PMID: 49429
  22. Sex-chromosome anomalies: recent developments.
    Sci Basis Med Annu Rev. 1965;:141-63 PMID: 4954660
  23. Structural aberrations of the X chromosome in man.
    Hum Genet. 1978 Apr 24;41(3):269-79 PMID: 649155
  24. Chromosome studies on testicular cells from 50 subfertile men.
    Lancet. 1966 Jul 9;2(7454):69-71 PMID: 4161021
  25. Dicentric and monocentric Robertsonian translocations in man.
    Humangenetik. 1972;16(3):217-26 PMID: 4117153
  26. A dicentric Y chromosome without evidence of sex chromosomal mosaicism, 46,XYqdic, in a patient with features of Turner's syndrome.
    J Med Genet. 1972 Mar;9(1):96-100 PMID: 5063516
  27. A patient with a dicentric Y chromosome.
    Clin Genet. 1974;6(4):326-31 PMID: 4442236
  28. Four new cases of Dicentric Y chromosomes.
    Hum Genet. 1977 May 10;36(3):249-60 PMID: 852871
  29. Translocations causing non-fluorescent Y chromosomes in human XO/XY mosaics.
    Hereditas. 1971;68(2):317-24 PMID: 4142012
  30. XO-XY mosaicism and nonfluorescent Y chromosome.
    Obstet Gynecol. 1973 Sep;42(3):421-8 PMID: 4724411
  31. Isochromosome Y (46,X,i(Yq)) and female phenotype.
    Clin Genet. 1973;4(5):410-4 PMID: 4751309
  32. THYROIDITIS AND GONADAL DYSGENESIS.
    N Engl J Med. 1964 Apr 16;270:805-10 PMID: 14108082
  33. [45,X/46,SYq dic-Sexchromosome mosaic].
    Humangenetik. 1975;27(2):81-90 PMID: 1150238
  34. Structural aberrations of the Y chromosome and the corresponding phenotype. Report of a case with the karotype 45,X-46,X,i(Yp).
    Humangenetik. 1973;19(1):57-66 PMID: 4725910
  35. Possible role for H--Y antigen in the primary determination of sex.
    Nature. 1975 Sep 18;257(5523):235-6 PMID: 1161026
  36. Apparently isodicentric but functionally monocentric X chromosome in man.
    Am J Hum Genet. 1974 Jan;26(1):83-92 PMID: 4130093
  37. [Dicentric Y chromosome in a male pseudohermaphrodite 45,X/46,X, dic (Y)/47, XYY].
    Ann Genet. 1977 Sep;20(3):185-9 PMID: 304702
  38. Dicentric Yp chromosome in a patient with the gonadal dysgenesis and gonadoblastoma.
    Humangenetik. 1975;27(3):251-3 PMID: 1150246
  39. [8 cases of XO-XY mosaicism, one XO-XYq--with gonadoblastoma].
    Union Med Can. 1969 Oct;98(10):1667-85 PMID: 5400063
  40. Isochromosome Yq in a woman with atypical Turner's syndrome.
    Hum Genet. 1977 Aug 31;38(1):49-55 PMID: 561748
  41. Chromosome aberrations in XO-XY mosaic individuals and their fathers.
    Am J Obstet Gynecol. 1967 Dec 15;99(8):1056-66 PMID: 6065298
  42. A male pseudohermaphrodite with a dicentric Y chromosome. Autoradiographic study.
    Humangenetik. 1968;6(2):131-41 PMID: 5704431
  43. Prenatal diagnosis of 45,X/46,XY mosaicism with postnatal confirmation in a phenotypically normal male infant.
    Clin Genet. 1976 Oct;10(4):232-8 PMID: 987872
  44. Human dicentric Y chromosomes. Case report and review of the literature.
    J Med Genet. 1973 Mar;10(1):74-9 PMID: 4697856
  45. 45,X/46,X,dic(Yq) mosaicism and mixed gonadal dysgenesis. Case report and review of the literature.
    Ann Genet. 1977 Dec;20(4):269-72 PMID: 305755
  46. Structural abnormalities of the sex chromosomes.
    Br Med Bull. 1969 Jan;25(1):94-8 PMID: 4882440
  47. Three dicentric Y chromosomes.
    Ann Hum Genet. 1970 Jul;34(1):39-50 PMID: 5529233
  48. XY gonadal dysgenesis and the H-Y antigen. Report on 12 cases.
    Hum Genet. 1979 Apr 5;47(3):269-77 PMID: 110669
  49. Further dicentric X isochromosomes and deletions, and a new structure i(X)(pter to q2102 to pter).
    J Med Genet. 1979 Aug;16(4):278-84 PMID: 490580
  50. Yq deletion, aspermia, and short stature.
    Hum Genet. 1977 Nov 2;39(1):117-22 PMID: 924439
  51. A theory explaining the abnormality in 45,X/46,XY mosaicism with non-fluorescent Y chromosome. presentation of three cases.
    Ann Genet. 1978 Mar;21(1):5-11 PMID: 308343
  52. Sex determination and gonadal differentiation in man. A unifying concept of normal and abnormal sex development.
    Clin Genet. 1971;2(6):379-86 PMID: 5155315
  53. The 45XO/46XY mosaic intersex syndrome.
    J Med Genet. 1966 Mar;3(1):23-32 PMID: 5911827
  54. Mosaicism and lack of fluorescence of Y chromosome.
    Obstet Gynecol. 1975 Sep;46(3):367-70 PMID: 1172221
  55. A tdic(5;15)(p31;p11) chromosome showing variation for constriction in the centromeric regions in a patient with the cri du chat syndrome.
    Cytogenet Cell Genet. 1979;24(1):15-26 PMID: 456039
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00279046
Published
1980-00-00
Pages
31-9
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00279046 View journal details
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