P. Burégio-Frota, L. Valença, G.F. Leal, A.R. Duarte, A.V.S. Bispo-Brito, E.M. Soares-Ventura, T.J. Marques-Salles, M.T.M.C. Nogueira, M.T.C. Muniz, M.L.M. Silva, F. Hunstig, T. Liehr and N. Santos
Published April 27, 2010
Genet. Mol. Res. 9 (2): 780-784 (2010)
DOI 10.4238/vol9-2gmr777

About the authors
P. Burégio-Frota, L. Valença, G.F. Leal, A.R. Duarte, A.V.S. Bispo-Brito, E.M. Soares-Ventura, T.J. Marques-Salles, M.T.M.C. Nogueira, M.T.C. Muniz, M.L.M. Silva, F. Hunstig, T. Liehr and N. Santos

Corresponding author
N. Santos
E-mail: santos_neide@yahoo.com.br

ABSTRACT

We report on a 23-year-old girl with short stature, short and wide neck, low posterior hairline, hypogonadism, underdeveloped breasts, infantile uterus, ovaries not visualized, and primary amenorrhea. Cytogenetic G-banding analysis revealed a mosaic karyotype of 46,X,dup(X)(q22)[35]/45,X[15], confirming the clinical suspicion of Turner syndrome. Molecular cytogenetics using a multicolor banding probe set for the X-chromosome characterized an inverted dup(X). Thekaryotype of the patient was therefore interpreted as 46,X,inv dup(X) (pter→q22::q22→pter). This patient had a mosaic Turner syndrome with a cell line comprising partial trisomy Xpter to Xq22 and partial monosomy Xq22 to Xqter.

 Key words: Inverted duplication; Partial monosomy; Partial trisomy; Multicolor banding; Mosaicism