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In this study, we report the first series of cases of Down syndrome (DS) cytogenetically analyzed in Sudan. Five children with clinical features of DS underwent cytogenetic and molecular cytogenetic analyses. Cytogenetic analysis of parents was also performed for counselling purposes. All children showed karyotypes consistent with DS. One child showed a Robertsonian translocation that was not present in either of her parents. The other cases showed classical trisomy 21. Molecular cytogenetic analysis confirmed the diagnosis in one case. Cytogenetic analysis of suspected DS is of value to objectively confirm the diagnosis and to provide a basis for genetic counselling.
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