Mother and son with deletion of 3p25-pter

Am J Med Genet. 1991 May 1;39(2):130-2. doi: 10.1002/ajmg.1320390203.


We report on a mother and son with a 3p25-pter deletion. Both have postnatal growth retardation, mental retardation, apparently low-set or malformed ears, and telecanthus. The mother also has ptosis and multiple joint pains, while the son has a long philtrum and anteverted nares. These phenotypes are compared to those of other 3p- patients. Both patients have many manifestations previously described. The son appears to be more severely affected than the mother.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adult
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 3*
  • Female
  • Growth Disorders / genetics
  • Humans
  • Intellectual Disability / genetics
  • Karyotyping
  • Male