Clinicopathologic and dysmorphic findings in recombinant chromosome 8 syndrome

Hum Pathol. 1984 Nov;15(11):1080-4. doi: 10.1016/s0046-8177(84)80252-x.


Clinical records, autopsy reports, and microscopic slides from 11 infants with the recombinant 8 syndrome, an inherited abnormality of chromosome 8 affecting Hispanics from New Mexico and Colorado, were evaluated. A prevalence of cardiac and genitourinary anomalies was found, while few central nervous system abnormalities were observed. Dysmorphic features associated with recombinant 8 syndrome are presented, with descriptions of the inheritance pattern and recurrence risk. Because recombinant 8 syndrome is a chromosomal disorder that will appear more and more frequently as kindreds enlarge, pathologists must be alert to its diagnostic characteristics and genetic implications.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Chromosome Aberrations / genetics
  • Chromosome Aberrations / pathology*
  • Chromosome Banding
  • Chromosome Disorders
  • Chromosomes, Human, 6-12 and X*
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Karyotyping
  • Male
  • Recombination, Genetic
  • Syndrome