Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Molecular Medicine Reports
Join Editorial Board Propose a Special Issue
Print ISSN: 1791-2997 Online ISSN: 1791-3004
Journal Cover
August 2012 Volume 6 Issue 2

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
August 2012 Volume 6 Issue 2

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Article

Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype

  • Authors:
    • Walid Al-Achkar
    • Abdulsamad Wafa
    • Thomas Liehr
    • Elisabeth Klein
    • Faten Moassass
  • View Affiliations / Copyright

    Affiliations: Department of Molecular Biology and Biotechnology, Division of Human Genetics, Atomic Energy Commission of Syria, Damascus, Syria, Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany
  • Pages: 293-296
    |
    Published online on: May 29, 2012
       https://doi.org/10.3892/mmr.2012.930
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

Abnormalities involving sex chromosomes account for approximately 0.5% of live births. The phenotypes of individuals with mosaic cell lines that exhibit structural aberrations of the X and Y chromosomes are variable and difficult to predict. Phenotypes associated with sex chromosome mosaicism vary from females with Turner syndrome to males with infertility, and include individuals with ambiguous genitalia. In this study, we report a 17-year-old male with phenotypic features of Klinefelter syndrome with an isodicentric Y chromo­some and a final karyotype of 45,X[4]/46,X,idic(Y)(q11.21)[95]/47,XX,+idic(Y)(q11.21)[1]. Application of high resolution molecular cytogenetic techniques as well as molecu­lar studies revealed two copies of the sex-determining region of Y chromosome (SRY) gene and two centromers. Additionally, the breakpoint in Yq11.21 was narrowed down between positions 13.4 and 14.3 MB (hg18). We present a patient with partial disomy of Ypter to Yq11.21 in the majority of the patient cells, showing phenotypic features of Klinefelter syndrome. The syndrome may have occurred due to a more prominent presence of the cell line 47,XX,+idic(Y)(q11.21) detected only once in 1% of the peripheral blood cells. This finding may prove helpful in similar cases with symptoms of Klinefelter syndrome, but which exhibit an absence of the cell line 47,XXY in peripheral blood.
View Figures

Figure 1

Figure 2

Figure 3

Figure 4

View References

1 

Hsu LY: Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet. 53:108–140. 1994. View Article : Google Scholar : PubMed/NCBI

2 

Yoshida A, Nakahori Y, Kuroki Y, Motoyama M, Araki Y, Miura K and Shirai MM: Dicentric Y chromosome in an azoospermic male. Mol Hum Reprod. 3:709–712. 1997. View Article : Google Scholar : PubMed/NCBI

3 

Tuck-Muller CM, Chen H, Martinez JE, Shen CC, Li S, Kusyk C, Batista DA, Bhatnagar YM, Dowling E and Wertelecki W: Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature. Hum Genet. 96:119–129. 1995. View Article : Google Scholar : PubMed/NCBI

4 

Krasna IH, Lee ML, Smilow P, Sciorra L and Eierman L: Risk of malignancy in bilateral streak gonads: the role of the Y chromosome. J Pediatr Surg. 27:1376–1380. 1992. View Article : Google Scholar : PubMed/NCBI

5 

Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, Frischauf AM, Lovell-Badge R and Goodfellow PN: A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature. 346:240–244. 1990. View Article : Google Scholar : PubMed/NCBI

6 

Yenamandra A, Deangelo P, Aviv H, Suslak L and Desposito F: Interstitial insertion of Y-specific DNA sequences including SRY into chromosome 4 in a 45,X male child. Am J Med Genet. 72:125–128. 1997. View Article : Google Scholar : PubMed/NCBI

7 

Yen PH: A long-range restriction map of deletion interval 6 of the human Y chromosome: a region frequently deleted in azoospermic males. Genomics. 54:5–12. 1998. View Article : Google Scholar : PubMed/NCBI

8 

Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O, et al: Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet. 10:383–393. 1995. View Article : Google Scholar : PubMed/NCBI

9 

Al-Achkar W, Wafa A, Moassass F and Liehr T: Partial trisomy 9p22 to 9p24.2 in combination with partial monosomy 9pter in a Syrian girl: a case report. Mol Cytogenet. 3:182010. View Article : Google Scholar : PubMed/NCBI

10 

Shaffer L, Slovak M and Cambell L: ISCN (2009): An International System for Human Cytogenetic Nomenclature. S. Karger; Basel: 2009

11 

Liehr T, Heller A, Starke H, Rubtsov N, Trifonov V, Mrasek K, Weise A, Kuechler A and Claussen U: Microdissection based high resolution multicolor banding for all 24 human chromosomes. Int J Mol Med. 9:335–339. 2002.PubMed/NCBI

12 

Al-Achkar W, Moassass F, Al-Halabi B and Al-Ablog A: Mutations of the Connexin 26 gene in families with non-syndromic hearing loss. Mol Med Report. 4:331–335. 2011. View Article : Google Scholar : PubMed/NCBI

13 

Wang X, Wang XR, Liu MG, Wang Q and Liu JY: Genetic analysis of a family with 46, XY ‘female’ associated with infertility. Acta Genetica Sinica. 33:19–25. 2006.

14 

Therman E, Sarto GE and Patau K: Apparently isodicentric but functionally monocentric X chromosome in man. Am J Hum Genet. 26:83–92. 1974.PubMed/NCBI

15 

Wolff DJ, Miller AP, Van Dyke DL, Schwartz S and Willard HF: Molecular definition of breakpoints associated with human Xq isochromosomes: implications for mechanisms of formation. Am J Hum Genet. 58:154–160. 1996.PubMed/NCBI

16 

Robinson DO, Dalton P, Jacobs PA, Mosse K, Power MM, Skuse DH and Crolla JA: A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome. J Med Genet. 36:279–284. 1999.PubMed/NCBI

17 

Codina-Pascual M, Oliver-Bonet M, Navarro J, Starke H, Liehr T, Gutiérrez-Mateo C, Sánchez-García JF, Arango O, Egozcue J and Benet J: FISH characterization of a dicentric Yq (p11.32) isochromosome in an azoospermic male. Am J Med Genet A. 127A:302–306. 2004. View Article : Google Scholar : PubMed/NCBI

18 

Quilter CR, Nathwani N, Conway GS, Stanhope R, Ralph D, Bahadur G, Serhal P, Taylor K and Delhanty JD: 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. 39:e802002. View Article : Google Scholar

19 

Hamberton JL, Canning N, Ray M and Smith S: A cytogenetic survey of 14,069 newborn infants. I Incidence of chromosome abnormalities. Clin Genet. 8:223–243. 1975. View Article : Google Scholar : PubMed/NCBI

20 

Smyth CM and Bremner WJ: Klinefelter syndrome. Arch Intern Med. 158:1309–1314. 1998. View Article : Google Scholar : PubMed/NCBI

21 

Paulsen CA, Gordon DL, Carpenter RW, Gandy HM and Drucker WD: Klinefelter's syndrome and its variants: a hormonal and chromosomal study. Recent Prog Horm Res. 24:321–363. 1968.

22 

Lukusa T, Fryns JP and van den Berghe H: Gonadoblastoma and Y-chromosome fluorescence. Clin Genet. 29:311–316. 1986. View Article : Google Scholar : PubMed/NCBI

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Al-Achkar W, Wafa A, Liehr T, Klein E and Moassass F: Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype . Mol Med Rep 6: 293-296, 2012.
APA
Al-Achkar, W., Wafa, A., Liehr, T., Klein, E., & Moassass, F. (2012). Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype . Molecular Medicine Reports, 6, 293-296. https://doi.org/10.3892/mmr.2012.930
MLA
Al-Achkar, W., Wafa, A., Liehr, T., Klein, E., Moassass, F."Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype ". Molecular Medicine Reports 6.2 (2012): 293-296.
Chicago
Al-Achkar, W., Wafa, A., Liehr, T., Klein, E., Moassass, F."Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype ". Molecular Medicine Reports 6, no. 2 (2012): 293-296. https://doi.org/10.3892/mmr.2012.930
Copy and paste a formatted citation
x
Spandidos Publications style
Al-Achkar W, Wafa A, Liehr T, Klein E and Moassass F: Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype . Mol Med Rep 6: 293-296, 2012.
APA
Al-Achkar, W., Wafa, A., Liehr, T., Klein, E., & Moassass, F. (2012). Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype . Molecular Medicine Reports, 6, 293-296. https://doi.org/10.3892/mmr.2012.930
MLA
Al-Achkar, W., Wafa, A., Liehr, T., Klein, E., Moassass, F."Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype ". Molecular Medicine Reports 6.2 (2012): 293-296.
Chicago
Al-Achkar, W., Wafa, A., Liehr, T., Klein, E., Moassass, F."Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype ". Molecular Medicine Reports 6, no. 2 (2012): 293-296. https://doi.org/10.3892/mmr.2012.930
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team