A liveborn case of 49,XXXY, + 18

J Med Genet. 1980 Oct;17(5):389-90. doi: 10.1136/jmg.17.5.389.

Abstract

The first case of a liveborn male infant trisomic for both the X and the No 18 chromosome is presented. The patient had multiple congenital anomalies many of which were similar in appearance to patients with trisomy 18. The proband died after 2 days. Both maternal and paternal karyotypes were normal.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosomes, Human, 16-18*
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Phenotype
  • Sex Chromosome Aberrations*
  • Trisomy*
  • X Chromosome