Partial Xp duplication due to a translocation t(X;15) in two male and two female patients: a familial case report and review of the literature.
A three generation familial translocation (X;15)(p22;p11) is responsible for duplication (X)(pter-->p22) in two male and two female patients. It is present in a balanced state in the mothers and with the derivative chromosome 15 in the children. The Xp segment of the derivative chromosome 15 is separated from the X inactivation center and cannot undergo X inactivation. As a result, there is functional disomy of Xp in the male and female patients that is responsible for mental retardation and other phenotypic findings.
Melaragno
M I
MI
Departamento de Morfologia, Universidade Federal de São Paulo, Brazil.
Ramos
M A
MA
Brunoni
D
D
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008297:Male; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014178:Translocation, Genetic; D014960:X Chromosome