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  • Title: Two cases of partial trisomy 10q syndrome due to a familial 10;20 translocation.
    Author: Tüysüz B, Hacihanefioglu S, Silahtaroglu A, Yilmaz S, Deviren A, Cenani A.
    Journal: Genet Couns; 2000; 11(4):355-61. PubMed ID: 11140413.
    Abstract:
    We describe an eleven day-old boy and his first degree double cousin who both have distal trisomy 10q syndrome. Their cytogenetic analysis using GTG-banding showed an unbalanced translocation 46, XY, -20, +der(20), t(10;20)(q22.3, p11) mat and 46, XX, -20, +der(20), t(10;20)(q22.3, p11) mat. The translocation was confirmed by FISH. We have found balanced translocation t(10;20)(q22.3; p11) with cytogenetic and FISH studies in the mothers and maternal grandfather of these children. Our cases had typical craniofacial and visceral anomalies of this syndrome. However case 1 had an agenesia of corpus callosum which was not previously described and case 2 had hypertrophied cardiomyopathy and cliteromegaly which were previously described as rare anomalies for this syndrome.
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