Malformazioni congenite multiple associate ad una doppia Anomalia cromosomica: Triplo-X e Trisomia 17-18
- 1 January 1964
- journal article
- research article
- Published by Cambridge University Press (CUP) in Acta geneticae medicae et gemellologiae
- Vol. 13 (3) , 253-265
- https://doi.org/10.1017/s1120962300015572
Abstract
A female baby, showing the characteristic malformation pattern of the 17-18 trisomy syndrome, was found to have two extra chromosomes in groups 6-X-12 and 17-18, respectively: the presence of double drum-sticks and of double Barr bodies leads to interprete the karyologic finding as a triple-X + 17-18 trisomy. Autopsy showed an interventricular septal defect and an abnormal histological structure of the ovaries.Keywords
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