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.

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.

Author Melaragno, Maria Isabel Autor UNIFESP Google Scholar
Ramos, MAD Google Scholar
Brunoni, Decio Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Abstract 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.
Keywords duplication (X)(pter -> p22)
translocation (X ; 15)
X inactivation
Language English
Date 1998-01-01
Published in Annales De Genetique. Paris: Expansion Sci Francaise, v. 41, n. 4, p. 189-194, 1998.
ISSN 0003-3995 (Sherpa/Romeo, impact factor)
Publisher Expansion Sci Francaise
Extent 189-194
Access rights Closed access
Type Article
Web of Science ID WOS:000077354300001
URI http://repositorio.unifesp.br/11600/42552

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