Deletion 9p and duplication 17p due to a translocation t(9; 17)(p23; p13)pat

Melaragno, Maria Isabel; Gonzalez, Claudette Hajaj; Brunoni, Decio; Kim, Chong Ae

Melaragno, Maria Isabel; Gonzalez, Claudette Hajaj; Brunoni, Decio; Kim, Chong Ae.

Rev. bras. genét ; 19(3): 493-6, set. 1996. ilus

Article in English | LILACS | ID: lil-189666

RESUMO

RESUMO

Relatamos o caso de um paciente apresentando monossomia 9p e trissomia 17p parciais decorrentes de uma translocaçäo equilibrada paterna t(9;17)(p23;p13). O fenótipo resultante no paciente assemelha-se mais ao observado na síndrome da monossomia 9p.

Subject(s)

Humans; Male; Female; Infant, Newborn; Infant; Child, Preschool; Chromosome Aberrations/genetics; Chromosomes, Human, Pair 17/genetics; Chromosomes, Human, Pair 9/genetics; Genetic Diseases, Inborn; Monosomy/genetics; Trisomy/genetics

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Index: LILACS (Americas) Main subject: Chromosomes, Human, Pair 9 / Chromosomes, Human, Pair 17 / Chromosome Aberrations Limits: Child, preschool / Female / Humans / Infant / Male / Infant, Newborn Language: English Journal: Rev. bras. genét Journal subject: Genetics / Histology Year: 1996 Type: Article

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