[Balanced chromosome rearrangements with abnormal phenotype]

J Genet Hum. 1988 Jan;36(1-2):37-43.
[Article in French]

Abstract

27 cases in which apparent balanced chromosomal rearrangements (reciprocal and translocations and pericentric inversions) are associated with phenotypic abnormalities are reported and compared with the previous published cases. Almost all patients display mental retardation and a non specific dysmorphism. Genetic counseling is different whether the abnormality is inherited or de novo. When an unexpected structural rearrangements is found in fetal cells, the attitude depends on the results of the parent's chromosomal study.

Publication types

  • English Abstract

MeSH terms

  • Chromosome Aberrations* / diagnosis
  • Chromosome Aberrations* / genetics*
  • Chromosome Disorders*
  • Congenital Abnormalities / genetics
  • Genetic Counseling
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Phenotype
  • Prenatal Diagnosis