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Journal of Applied Genetics

, Volume 49, Issue 3, pp 301–303 | Cite as

Turner syndrome mosaicism: an unusual case with a de novo large dicentric marker chromosome: mos 45,X/46,X, ter rea(X;X)(p22.3;p22.3)

  • Anna Lisa Nucaro
  • Paola Melis
  • Maria Rosaria Casini
  • Rossano Rossino
  • Milena Cau
  • Maria Antonietta Melis
  • Sandro Loche
Case Report

Abstract

X/X translocations are quite rare in humans. The effect of this anomaly on the phenotype is variable and depends on the amount of deleted material and whether the chromosomes are joined by their long or short arms. We report an unusual case of Turner syndrome mosaicism in a 16-year-old girl, who was referred to our Institute for primary amenorrhoea associated with short stature. Endocrine evaluation revealed hypergonadotropic hypogonadism, which required a study of the karyotype. Cytogenetic analysis, performed on peripheral blood leucocytes, showed a mos 45,X/46,X,ter rea (X;X)(p22.3;p22.3) de novo karyotype. The prevalent cell line was 45,X (90% cells). A second cell line (10% cells) showed a very large marker chromosome, similar to a large metacentric chromosome. FISH (fluorescent in situ hybridisation) and molecular analysis revealed that the marker chromosome was dicentric and totally derived from the paternal X chromosome.

Keywords

FISH marker der(X) mosaicism Turner syndrome X/X translocation 

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Copyright information

© Institute of Plant Genetics, Polish Academy of Sciences, Poznan 2008

Authors and Affiliations

  • Anna Lisa Nucaro
    • 1
  • Paola Melis
    • 3
  • Maria Rosaria Casini
    • 2
  • Rossano Rossino
    • 3
  • Milena Cau
    • 4
  • Maria Antonietta Melis
    • 4
  • Sandro Loche
    • 2
  1. 1.INN-CNRMonserratoItaly
  2. 2.Servizio di Endocrinologia PediatricaOspedale Regionale MicrocitemieItaly
  3. 3.Dipartimento di Scienze Pediatriche e Medicina ClinicaItaly
  4. 4.Dipartimento di Scienze Biomediche e BiotecnologieUniversitáItaly

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