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.
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Data
1998-01-01
Autores
Melaragno, Maria Isabel [UNIFESP]
Ramos, MAD
Brunoni, Decio [UNIFESP]
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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.
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Annales De Genetique. Paris: Expansion Sci Francaise, v. 41, n. 4, p. 189-194, 1998.