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

Genetics and Molecular Biology

Aline Lourenço Da Silva¹  Renata Ll Ferreira De Lima¹  Lucilene Arilho Ribeiro¹  Danilo Moretti-ferreira¹ 

[1] ,Universidade Estadual Paulista Júlio de Mesquita Filho Serviço de Aconselhamento Genético Botucatu SP ,Brazil

关键词: Robertsonian translocation;    X monosomy;    interchromosomal effect;   

DOI  :  10.1590/S1415-47572006000100010

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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