Normal adaptive function with learning disability in duplication 8p including band p22

Am J Med Genet. 1998 Jun 30;78(2):114-7. doi: 10.1002/(sici)1096-8628(19980630)78:2<114::aid-ajmg3>;2-6.


Duplication 8p usually results in a syndrome characterized by profound mental retardation, mild facial anomalies, and malformations of hand, heart, and brain. We report on a large kindred segregating a Y;8 translocation in whom several individuals have duplication 8p22-->8pter. These individuals have normal adaptive function despite their unbalanced karyotype. The family was studied with G-banding and fluorescent in situ hybridization (FISH) using probes to chromosomes 8 and Y. Comparison of this family with other reported cases defines a mild clinical outcome for trisomy 8p22-->8pter in contrast to the severe findings when the duplication involves a longer, more proximal segment.

Publication types

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

MeSH terms

  • Adaptation, Physiological
  • Chromosome Banding
  • Chromosomes, Human, Pair 8*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Learning Disabilities / genetics*
  • Male
  • Pedigree
  • Translocation, Genetic*
  • Y Chromosome