Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl

Am J Med Genet A. 2005 Jun 15;135(3):304-7. doi: 10.1002/ajmg.a.30727.


Monosomy of 18q12.3 has been reported in only 16 cases, in one as a mosaic with a normal cell line. Abnormal behaviour, developmental delay, normal measurements, and minor facial anomalies including ptosis, bilateral epicanthus, strabismus, short and slightly down-slanting palpebral fissures, and full cheeks are characteristic manifestations. We report on a 26-month-old girl with del(18)(q12.2q21.1) and typical phenotype. Microsatellite mediated haplotype analysis showed approximately 12 Mb deletion and demonstrated that the deletion was most likely formed during paternal meiosis by a rearrangement between the grandpaternal sister chromatids.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Child, Preschool
  • Chromatids / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 18 / genetics*
  • Developmental Disabilities / pathology*
  • Face / abnormalities
  • Family Health
  • Fathers
  • Female
  • Humans
  • Karyotyping
  • Male
  • Mental Disorders / pathology
  • Monosomy
  • Pedigree