A Rare Double Aneuploidy Case (Down-Klinefelter)


Bozdogan S. T. , BİŞGİN A.

JOURNAL OF PEDIATRIC GENETICS, cilt.6, ss.241-243, 2017 (ESCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 6 Konu: 4
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1055/s-0037-1604098
  • Dergi Adı: JOURNAL OF PEDIATRIC GENETICS
  • Sayfa Sayısı: ss.241-243

Özet

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.