X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome

Artigo

Fecha

2006-01-01

Registro en:

Genetics and Molecular Biology. Sociedade Brasileira de Genética, v. 29, n. 1, p. 47-48, 2006.

1415-4757

http://hdl.handle.net/11449/30479

10.1590/S1415-47572006000100010

S1415-47572006000100010

S1415-47572006000100010.pdf

0000-0002-9256-7623

http://repositorioslatinoamericanos.uchile.cl/handle/2250/3903362

Autor

Universidade Estadual Paulista (Unesp)

Institución

Universidade Paulista Júlio de Mesquita Filho (Brasil)

Resumen

We describe a case of X monosomy associated with a maternally inherited t(13;14) Robertsonian translocation in a girl with Turner syndrome. The girl's X chromosome was demonstrated to be maternally inherited, ruling out the hypothesis that the translocation exerted an interchromosomal effect on the origin of the monosomy. Chromosomes 13 and 14 showed biparental inheritance.

Materias

Robertsonian translocation

X monosomy

interchromosomal effect

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