Abstract

Identification of a de novo inv dup(X)(pter�q22) by multicolor banding in a girl with Turner syndrome

Author(s): P. Bur�©gio-Frota, L. Valen�§a, 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

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). The karyotype 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.

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