Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1

J Int Med Res. 2022 Sep;50(9):3000605221121955. doi: 10.1177/03000605221121955.


The 18q12.3 region contains the SET binding protein 1 (SETBP1) gene. SETBP1 mutations or deletions are associated with Schinzel-Giedion syndrome or intellectual developmental disorder, autosomal dominant 29. We report the prenatal diagnosis and genetic counseling of a patient with a maternally inherited 18q12.3 microdeletion. In this family, the mother and son carried the same microdeletion. Chromosomal microdeletions and microduplications are difficult to detect using conventional cytogenetics, whereas the combination of prenatal ultrasound, karyotype analysis, chromosomal microarray analysis, and genetic counseling is helpful for the prenatal diagnosis of chromosomal microdeletions/microduplications.

Keywords: Chromosomal microarray analysis; SET binding protein 1; autosomal dominant 29; chromosomal microdeletion; chromosomal microduplication; intellectual developmental disorder; prenatal diagnosis.

MeSH terms

  • Carrier Proteins / genetics
  • Chromosome Deletion
  • Chromosome Disorders* / diagnosis
  • Chromosome Disorders* / genetics
  • Chromosomes, Human, Pair 18
  • Chromosomes, Human, Pair 9
  • Cytogenetic Analysis
  • Female
  • Hand Deformities, Congenital* / genetics
  • Humans
  • Nails, Malformed* / genetics
  • Nuclear Proteins* / genetics
  • Pregnancy
  • Prenatal Diagnosis


  • Carrier Proteins
  • Nuclear Proteins
  • SETBP1 protein, human

Supplementary concepts

  • 9q22.3 Microdeletion
  • Chromosome 18, deletion 18q23