A case with isochromosome 18p and 2q13 deletion including the BUB1 gene

Clin Dysmorphol. 2018 Jul;27(3):101-104. doi: 10.1097/MCD.0000000000000223.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aneuploidy
  • Chromosome Deletion
  • Chromosomes, Human, Pair 18 / genetics
  • Chromosomes, Human, Pair 18 / physiology
  • Chromosomes, Human, Pair 2 / genetics
  • Chromosomes, Human, Pair 2 / physiology
  • Family
  • Female
  • Humans
  • Infant
  • Isochromosomes / genetics
  • Isochromosomes / physiology
  • Karyotyping
  • Male
  • Protein Serine-Threonine Kinases / genetics*
  • Protein Serine-Threonine Kinases / physiology

Substances

  • BUB1 protein, human
  • Protein Serine-Threonine Kinases

Supplementary concepts

  • Chromosome 18, tetrasomy 18p