1980•PubMedRequires access
Familial translocation 2;17 with partial trisomy 2q32 leads to 2qter.
P Giliberti, Antonio Celona, Della Pietra M, De Masi Rv, G Fioretti, Livio Pagano, S Renda, A Vetrella, V Ventruto
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Abstract
A case of 2q trisomy in a malformed female infant resulting from unbalanced segregation of maternal origin is reported. The mother and one of the proposita's sibs where found to be carriers of balanced translocation 2;17. Two other members in the kindred had died with multiple malformations. The patient's karyotype was 46,XX,-17, + der (17)t(2;17)(q32;q25)mat.