%0 Journal Article
%T Neocentric X-chromosome in a girl with Turner-like syndrome
%A Morteza Hemmat
%A Boris T Wang
%A Peter E Warburton
%A Xiaojing Yang
%A Fatih Z Boyar
%A Mohammed El-Naggar
%A Arturo Anguiano
%J Molecular Cytogenetics
%D 2012
%I BioMed Central
%R 10.1186/1755-8166-5-29
%X G-banded chromosome analysis revealed a mosaic female karyotype involving two abnormal cell lines. One cell line (84% of analyzed metaphases) had a structurally abnormal X chromosome (duplication of the long arm and deletion of the short arm) and a normal X chromosome. The other cell line (16% of cells) exhibited monosomy X. C-banding studies were negative for the abnormal X chromosome. FISH analysis revealed lack of hybridization of the abnormal X chromosome with both the X centromere-specific probe and the ¡°all human centromeres¡± probe, a pattern consistent with lack of the X chromosome endogenous centromere. A FISH study using an XIST gene probe revealed the presence of two XIST genes, one on each long arm of the iso(Xq), required for inactivation of the abnormal X chromosome. R-banding also demonstrated inactivation of the abnormal X chromosome. An assay for centromeric protein C (CENP-C) was positive on both the normal and the abnormal X chromosomes. The position of CENP-C in the abnormal X chromosome defined a neocentromere, which explains its mitotic stability. The karyotype is thus designated as 46,X,neo(X)(qter-£¿>£¿q12::q12-£¿>£¿q21.2-£¿>£¿neo-£¿>£¿q21.2-£¿>£¿qter)[42]/45,X[8], which is consistent with stigmata of Turner syndrome. The mother of this patient has a normal karyotype; however, the father was not available for study.To our knowledge, this is the first case of mosaic Turner syndrome involving an analphoid iso(Xq) chromosome with a proven neocentromere among 90 previously described cases with a proven neocentromere.
%K Neocentromere
%K Turner Syndrome
%K X-inactivation
%K Mosaicism
%U http://www.molecularcytogenetics.org/content/5/1/29/abstract