Maternal isochromosome 7q and paternal isochromosome 7p in a boy with growth retardation

Am J Med Genet. 2001 Aug 1;102(2):169-72. doi: 10.1002/ajmg.1430.


A 12-year 9-month-old boy with postnatal growth retardation, normal psychomotor development, and minor anomalies that included a triangular-shaped face, small nose, and narrow and high-arched palate is reported. The constitutional karyotype was 46,XY,i(7)(p10),i(7)(q10). Molecular investigations revealed the presence of a maternal isodisomy 7q and a paternal isodisomy 7p. The clinical and molecular findings are notably congruent with a recently reported case and support the hypothesis of one or more maternally imprinted genes located on the long arm of chromosomes 7 that regulate, in particular, postnatal growth.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Chromosome Banding
  • Chromosomes, Human, Pair 7 / genetics*
  • Family Health
  • Female
  • Growth Disorders / genetics*
  • Growth Disorders / pathology
  • Humans
  • Isochromosomes / genetics*
  • Karyotyping
  • Male