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

Silva, Aline Lourenço da; Lima, Renata L. L. Ferreira de; Ribeiro, Lucilene Arilho; Moretti-Ferreira, Danilo

Silva, Aline Lourenço da; Lima, Renata L. L. Ferreira de; Ribeiro, Lucilene Arilho; Moretti-Ferreira, Danilo.

Silva, Aline Lourenço da; Universidade Estadual Paulista Júlio de Mesquita Filho. Serviço de Aconselhamento Genético. Botucatu. BR
Lima, Renata L. L. Ferreira de; Universidade Estadual Paulista Júlio de Mesquita Filho. Serviço de Aconselhamento Genético. Botucatu. BR
Ribeiro, Lucilene Arilho; Universidade Estadual Paulista Júlio de Mesquita Filho. Serviço de Aconselhamento Genético. Botucatu. BR
Moretti-Ferreira, Danilo; Universidade Estadual Paulista Júlio de Mesquita Filho. Serviço de Aconselhamento Genético. Botucatu. BR

Genet. mol. biol ; 29(1): 47-48, 2006. ilus

Article in English | LILACS | ID: lil-424734

ABSTRACT

ABSTRACT

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.

Subject(s)

Humans; Female; Child, Preschool; Turner Syndrome/genetics; Translocation, Genetic; Monosomy

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Full text: Available Index: LILACS (Americas) Main subject: Translocation, Genetic / Turner Syndrome Limits: Child, preschool / Female / Humans Language: English Journal: Genet. mol. biol Journal subject: Genetics Year: 2006 Type: Article Affiliation country: Brazil Institution/Affiliation country: Universidade Estadual Paulista Júlio de Mesquita Filho/BR

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