Premium
Mental retardation in association with a balanced X‐autosome translocation and random inactivation of the X chromosomes
Author(s) -
Sands Margaret E.
Publication year - 1980
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1980.tb00155.x
Subject(s) - chromosomal translocation , x chromosome , x inactivation , autosome , karyotype , genetics , mentally retarded , biology , chromosome , psychology , developmental psychology , gene
A woman whose karyotype shows an apparently balanced reciprocal translocation, 46,X, t(Xq +; 10q —) is described. She is profoundly mentally retarded and shows minor physical abnormalities with normal sexual development. There is a random pattern of late replication of the normal X and the X involved in the translocation, whereas in most balanced X‐autosome translocations there is preferential inactivation of the normal X.