Partial trisomy 18(q11 leads to qter) in an infant and aborted fetus resulting from a balanced paternal translocation t(13;18)(q32:q11)

Ann Genet. 1978 Mar;21(1):60-4.


Partial trisomy 18 is described in a two month old female with severe mental, motor and growth retardation, associated with multiple congenital anomalies characteristic of complete trisomy 18. Trisomy for almost all of 18q resulted from adjacent I segregation of a paternally inherited translocation t(13; 18)(q32:q11). The balanced translocation was observed in three generations of the family. Partial trisomy 18q identical to that observed in the proband was found in a subsequent miscarriage.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abortion, Spontaneous
  • Chromosomes, Human, 16-18*
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Pedigree
  • Phenotype
  • Pregnancy
  • Translocation, Genetic*
  • Trisomy*