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)

• Authors: A.L. Nucaro , P. Melis , M.R. Casini , R. Rossino , M. Cau , M.A. Melis , S. Loche
• Languages of publication: EN

Abstracts

EN

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

EN

FISH; MARKER; MOSAICISM; TURNER SYNDROME

Discipline

• GENETICS: GENETICS

• Publisher: Institute of Plant Genetics, Polish Academy of Sciences
• Journal: Journal of Applied Genetics
• Year: 2008
• Volume: 49
• Issue: 3
• Pages: 301-303

Contributors

author

A.L. Nucaro

author

P. Melis

author

M.R. Casini

author

R. Rossino

author

M. Cau

author

M.A. Melis

author

S. Loche

• Document Type: ARTICLE
• Publication order reference: A.L. Nucaro, INN-CNR, Cittadella Universitaria, SS 554, bivio Sestu, 09042 Monserrato, Cagliari, Italy