J Pediatr Genet 2017; 06(04): 241-243
DOI: 10.1055/s-0037-1604098
Case Report
Georg Thieme Verlag KG Stuttgart · New York

A Rare Double Aneuploidy Case (Down–Klinefelter)

Sevcan Tug Bozdogan1, Atil Bisgin1
  • 1Department of Medical Genetics, Balcali Clinics and Hospital, Faculty of Medicine, Cukurova University, Adana, Turkey
Further Information

Publication History

23 November 2016

01 June 2017

Publication Date:
06 July 2017 (eFirst)


Down's syndrome has its own dysmorphic findings and is accompanied by mental retardation and hypotonia. Klinefelter's syndrome is a syndrome caused by a numerical abnormality that affects male physical and cognitive development. This case reports a unique finding of 48,XXY, + 21 and a current literature review. A 4-month-old male patient presented with typical clinical features of Down's syndrome with hypothyroidism, atrial septal defect, ventricular septal defect, and patent ductus arteriosus without any phenotypic signs of Klinefelter's syndrome.