title: X;15 translocation in a retarded girl: X inactivation pattern and attempt to localise the hexosaminidase A and other loci.
abstract: Cytogenetic studies on a retarded girl showed a complex S;15 translocation, karyotype 45,X,-15,+t(X15). The translocation X chromosome was non-randomly partially inactivated, the inactivation being mainly confined to the X segment and in some cells only to the X long arm. Gene marker studies failed to show anomalous segregation of the hexosaminidase A gene or any other gene markers tested.
mesh_terms: D000015:Abnormalities, Multiple / Q000150:complications / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002901:Chromosomes, Human, 13-15 / Q000648:ultrastructure*; D005260:Female; D005819:Genetic Markers; D006596:Hexosaminidases / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D007621:Karyotyping; D012730:Sex Chromosomes / Q000648:ultrastructure*; D014178:Translocation, Genetic; D014960:X Chromosome / Q000648:ultrastructure*
chemical_list: D005819:Genetic Markers; D006596:Hexosaminidases