Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea

Am J Hum Genet. 1994 Oct;55(4):747-52.


Uniparental disomy for maternal chromosome 7 has been described in three patients with recessive disorders. Short stature in each of these patients has been explained by the effect of imprinting of growth-related genes on maternal chromosome 7. Alternatively, although less likely, all these patients may be homozygous for a rare recessive mutation. Here we report both paternal isodisomy for chromosome 7 and normal growth in a patient with a recessive disorder, congenital chloride diarrhea. She had inherited only paternal alleles at 10 loci and was homozygous for another 10 chromosome 7 loci studied. Her physical status and laboratory tests were normal except for a mild high-frequency sensorineural hearing loss. As the patient has normal stature, it is likely that the paternal chromosome 7 lacks the suggested maternal imprinting effect on growth. Paternal isodisomy for human chromosome 7 may have no phenotypic effect on growth.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chlorides / metabolism*
  • Chromosome Aberrations*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 7*
  • DNA / blood
  • Diarrhea, Infantile / congenital
  • Diarrhea, Infantile / genetics*
  • Fathers
  • Female
  • Genes, Recessive
  • Genetic Markers
  • Growth
  • Humans
  • Infant, Newborn
  • Male
  • Pedigree
  • Polymorphism, Genetic


  • Chlorides
  • Genetic Markers
  • DNA