Complex congenital heart malformations in mosaic tetrasomy 8p: case report and review of the literature

Am J Med Genet. 1997 Dec 19;73(3):330-3. doi: 10.1002/(sici)1096-8628(19971219)73:3<330::aid-ajmg19>;2-k.


We describe a 5-month-old boy with complex congenital heart defects (dTGA, DORV, VSD, ASD, and PDA), minor facial and ear anomalies, deep palmar creases, multiple vertebral anomalies, agenesis of the corpus callosum, and mosaic tetrasomy 8p (47,XY,+i(8)(p10)[88%]/46,XY[12%] in blood with normal chromosomes in cultured skin fibroblasts. This infant represents the eleventh reported case of mosaic tetrasomy 8p since its first description by Kristofferson et al. [1988: Clin Genet 34:201-203]. The pattern of heart malformations and discordance of blood and fibroblast karyotypes make our case unique. Our report and review suggest that an important distinction between mosaic tetrasomy 8p and other chromosome 8 aneuploidies involves the increased incidence and complexity of congenital heart malformations.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Aneuploidy*
  • Chromosomes, Human, Pair 8*
  • Ductus Arteriosus, Patent / genetics
  • Facial Asymmetry / congenital
  • Facial Asymmetry / genetics
  • Heart Defects, Congenital / genetics*
  • Heart Murmurs / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mosaicism*
  • Respiratory Distress Syndrome, Newborn / genetics