A Rare Double Aneuploidy Case (Down-Klinefelter)


Bozdogan S. T. , BİŞGİN A.

JOURNAL OF PEDIATRIC GENETICS, vol.6, no.4, pp.241-243, 2017 (Journal Indexed in ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 6 Issue: 4
  • Publication Date: 2017
  • Doi Number: 10.1055/s-0037-1604098
  • Title of Journal : JOURNAL OF PEDIATRIC GENETICS
  • Page Numbers: pp.241-243

Abstract

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.