A Rare Double Aneuploidy Case (Down-Klinefelter)

Bozdogan S. T., BİŞGİN A.

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

  • Publication Type: Article / Article
  • Volume: 6 Issue: 4
  • Publication Date: 2017
  • Doi Number: 10.1055/s-0037-1604098
  • Journal Name: JOURNAL OF PEDIATRIC GENETICS
  • Journal Indexes: Emerging Sources Citation Index (ESCI)
  • Page Numbers: pp.241-243
  • Keywords: aneuploidy, chromosome, syndrome, OF-THE-LITERATURE, DOUBLE TRISOMY, 48,XXY,+21, CHROMOSOMES, PATIENT, CHILD
  • Çukurova University Affiliated: Yes

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.