A, 1;6, translocation associated with congenital glaucoma and cleft lip and palate

Hum Hered. 1975;25(6):453-60. doi: 10.1159/000152760.

Abstract

A translocation of a part of the long arm of a chromosome No. 1 onto the long arm of a chromosome No. 6 was observed in a 2 1/2-year-old boy with mental retardation, harelip, cleft palate and congenital glaucoma. Different banding methods revealed that the translocation t(1;6)(q23;q27) apparently was balanced. The conncection between the patients' symptoms and the chromosomal rearrangement might be fortuitous or produced by the chromosome aberration.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosomes, Human, 1-3*
  • Chromosomes, Human, 6-12 and X*
  • Cleft Lip / genetics*
  • Cleft Palate / genetics*
  • Dermatoglyphics
  • Glaucoma / congenital
  • Glaucoma / genetics*
  • Humans
  • Infant
  • Intellectual Disability / genetics
  • Lymphocytes / cytology
  • Male
  • Translocation, Genetic*