A Rare Double Aneuploidy Case (Down-Klinefelter)

Bozdogan S. T., BİŞGİN A.

JOURNAL OF PEDIATRIC GENETICS, cilt.6, sa.4, ss.241-243, 2017 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 6 Sayı: 4
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1055/s-0037-1604098
  • Dergi Adı: JOURNAL OF PEDIATRIC GENETICS
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI)
  • Sayfa Sayıları: ss.241-243
  • Anahtar Kelimeler: aneuploidy, chromosome, syndrome, OF-THE-LITERATURE, DOUBLE TRISOMY, 48,XXY,+21, CHROMOSOMES, PATIENT, CHILD
  • Çukurova Üniversitesi Adresli: Evet

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.