Fluorescence in situ Hybridization of psu dic(X)(Xpter-Xq21::Xq21-Xpter) in Two Patients with Turner’s SyndromeFernández R.a · Pásaro P.a,b
a Department of Psychobiology and b Institute of Health Science, University of A Coruña, Spain
Dr. Eduardo Pásaro Méndez
Department of Psychobiology, University of A Coruña
Campus Elviña, s/n
E–15071 A Coruña (Spain)
Fax 34 (9)81 16 71 53, E-Mail firstname.lastname@example.org
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Dicentric X chromosomes of different derivations were present in 6 out of a total of 42 patients with Turner’s syndrome. The most unusual cases were observed in 2 patients having a psu dic(X)(Xpter-Xq21::Xq21-Xpter) in mosaic form who were examined by fluorescence in situ hybridization. Alu-PCR products from hybrid cell lines were used as partial chromosome paints for the p arm of the human X chromosomes. The other 4 patients displayed isodicentric idic(Xq) in mosaic form. One of the patients displayed 9 cell lines originating from the accumulation of isodicentric idic(Xq) chromosomes, along with loss of chromosome material which resulted in fragments of varying size.
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