X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes

Hum Genet. 1984;66(1):71-6. doi: 10.1007/BF00275190.

Abstract

X-inactivation patterns were studied by replication analyses both in lymphocytes and skin fibroblasts of two patients carrying balanced X-autosome translocations, t(X;10)-(pter;q11) and t(X;17)(q11;q11), and one patient with an unbalanced translocation t(X;22)(p21;q11). Preferential late replication of the normal X chromosome was found in lymphocytes of both patients carrying balanced translocations and in skin fibroblasts of the patient carrying the translocation t(X;17). However, skin fibroblasts of the patient with a translocation t(X;10) showed preferential late replication of the abnormal der(X) chromosome with no spreading of late replication to the autosomal segment. In the case of unbalanced translocation t(X;22) there was preferential late replication of the der(X) chromosome both in lymphocytes and skin fibroblasts. The abnormal phenotype of the patients is discussed in relation to the observed X-inactivation patterns and the variability of the patterns in different tissues.

Publication types

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

MeSH terms

  • Adult
  • Chromosome Banding
  • Chromosomes, Human, 16-18
  • Chromosomes, Human, 21-22 and Y
  • Chromosomes, Human, 6-12 and X
  • Dosage Compensation, Genetic*
  • Female
  • Fibroblasts / ultrastructure
  • Humans
  • Infant
  • Infant, Newborn
  • Karyotyping
  • Lymphocytes / ultrastructure
  • Phenotype
  • Sex Chromosome Aberrations / genetics*
  • Skin / cytology
  • Translocation, Genetic*
  • X Chromosome*