A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: Genotype-phenotype correlation and risk of recombinant chromosomes based on systematic review of the literature.

Lustosa-Mendes, Elaine; Dos Santos, Ana Paula; Viguetti-Campos, Nilma Lúcia; Vieira, Társis Paiva; Gil-da-Silva-Lopes, Vera Lúcia

Lustosa-Mendes, Elaine; Dos Santos, Ana Paula; Viguetti-Campos, Nilma Lúcia; Vieira, Társis Paiva; Gil-da-Silva-Lopes, Vera Lúcia.

Afiliación

Lustosa-Mendes E; Faculty of Medical Sciences, Department of Medical Genetics, University of Campinas (Unicamp), São Paulo, Brazil.
Dos Santos AP; Faculty of Medical Sciences, Department of Medical Genetics, University of Campinas (Unicamp), São Paulo, Brazil.
Viguetti-Campos NL; Faculty of Medical Sciences, Department of Medical Genetics, University of Campinas (Unicamp), São Paulo, Brazil.
Vieira TP; Faculty of Medical Sciences, Department of Medical Genetics, University of Campinas (Unicamp), São Paulo, Brazil.
Gil-da-Silva-Lopes VL; Faculty of Medical Sciences, Department of Medical Genetics, University of Campinas (Unicamp), São Paulo, Brazil.

Am J Med Genet A ; 173(1): 143-150, 2017 Jan.

Article en En | MEDLINE | ID: mdl-27633903

Asunto(s)

Deleción Cromosómica; Duplicación Cromosómica; Inversión Cromosómica; Estudios de Asociación Genética; Herencia Materna; Cariotipo Anormal; Anomalías Múltiples/diagnóstico; Anomalías Múltiples/genética; Niño; Facies; Femenino; Humanos; Masculino; Fenotipo; Recombinación Genética; Tomografía Computarizada por Rayos X

Palabras clave

chromosome 18 pericentric inversion; genotype-phenotype correlation; microarray analysis; orofacial cleft; recombinant chromosome 18; recurrence; single maxillary central incisor

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Deleción Cromosómica / Estudios de Asociación Genética / Duplicación Cromosómica / Herencia Materna / Inversión Cromosómica Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Límite: Child / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Brasil

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