Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21)

J Couturier; B Dutrillaux; P Garber; O Raoul; M F Croquette; J C Fourlinnie; E Maillard

doi:10.1007/BF00569351

Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21)

Hum Genet. 1979 Jul 18;49(3):319-26. doi: 10.1007/BF00569351.

Authors

J Couturier, B Dutrillaux, P Garber, O Raoul, M F Croquette, J C Fourlinnie, E Maillard

PMID: 157971
DOI: 10.1007/BF00569351

Abstract

A familial translocation t(X;21)(q2700;q11) is studied. A girl, trisomic for almost all the chromosome 21, has a mildly abnormal phenotype. A second girl, phenotypically abnormal, is monosomic for the juxtacentromeric region of chromosome 21 only. A comparison of the replication pattern and of the activity of superoxide dismutase (gene located on chromosome 21) shows a clear correlation between late replication, gene inactivation and phenotype expression of chromsome 21.

Publication types

Case Reports

MeSH terms

Chromosomes, Human, 21-22 and Y*
DNA Replication*
Down Syndrome / genetics
Female
Humans
Infant, Newborn
Intellectual Disability / genetics
Male
Pedigree
Phenotype
Sex Chromosomes*
Translocation, Genetic*
X Chromosome*