[Triploidy syndrome: a case report]

Minerva Pediatr. 1995 Jul-Aug;47(7-8):307-11.
[Article in Italian]

Abstract

Triploidy is a complete extra set of chromosomes and results in a clinically recognizable lethal syndrome with hydatiform placental changes, severe intrauterine growth deficiency, cranial bone abnormalities, eye defects, malformed ears, syndactyly, genital anomalies, congenital heart defects and brain anomalies. Less severe are instances of diploid-tetraploid mixoploidy and patients are more likely to survive. The present report is another contribution to the knowledge of human triploidy: we describe a 69,XXY triploid male occurred to our observation.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Syndrome