A de novo reciprocal t(1;17) translocation with regular trisomy 21

Year 2012, Volume: 4 Issue: 2, 15 - 18, 01.12.2012

Selda Sımsek Aysegul Turkyılmaz Hilmi Isı Diclehan Oral Selahaddin Tekes Mehmet Nur Talay

Abstract

Aim: A -37 days male infant with Down syndrome exhibited an autosomal translocation t(1;17) in addition to trisomy 21. Case:A 37 days male infant with Down syndrome was referred to Dicle University, Medical Faculty, Department of Medical Biology for karyotype analysis. On detailed clinical examination of the case was performed in the department of pediatry. Cytogenetic analysis was performed by standart peripheral blood culture and GTG method by using phytohemagglutinin-stimulated lymphocyte.The chromosomal constitution of the patient was found to be 47, XX, t(1;17), +21.His parents showed a normal chromosome complement. The translocation must have been an apparently “balanced” one as the proband presented with typical features of Down syndrome alone.Conclusion: Prenatal diagnosis should be offered even if there is no other important finding in the advanced maternal age, on prenatal consultation

Keywords

Down syndrome, reciprocal translocation, interchromosomal effect

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