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Duodenal atresia in 17q12 microdeletion including HNF1B: a new associated malformation in this syndrome.
Quintero-Rivera, Fabiola; Woo, Jennifer S; Bomberg, Eric M; Wallace, W Dean; Peredo, Jane; Dipple, Katrina M.
Afiliación
  • Quintero-Rivera F; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, Los Angeles, California; UCLA Clinical Genomics Center, Los Angeles, California.
Am J Med Genet A ; 164A(12): 3076-82, 2014 Dec.
Article en En | MEDLINE | ID: mdl-25256560
Deletions of chromosome 17q12 [OMIM 614527] encompass a wide range of phenotypes, including renal cysts, diabetes mellitus, pancreatic structural abnormalities, genital tract anomalies, developmental delay, learning difficulties, and more recently, autism spectrum disorder and schizophrenia. To date, gastrointestinal malformations have not been fully characterized in this syndrome. In this case report, we describe a four-year-old girl with a 17q12 microdeletion who was born with duodenal atresia, bilateral renal cysts, left kidney dysplasia, a midline cystic structure at the conus medullaris, and dysmorphic features. Both the patient and her affected father were found to have a deletion of 17q12, which encompasses the HNF1B (hepatocyte nuclear factor beta). It is hypothesized that HNF1B may play a role in intestinal differentiation and development. Our clinical report further expands the pre-and post-natal presentation of this rare microdeletion syndrome.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Anomalías Múltiples / Cromosomas Humanos Par 17 / Aberraciones Cromosómicas / Obstrucción Duodenal / Factor Nuclear 1-beta del Hepatocito Tipo de estudio: Risk_factors_studies Límite: Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article Pais de publicación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fenotipo / Anomalías Múltiples / Cromosomas Humanos Par 17 / Aberraciones Cromosómicas / Obstrucción Duodenal / Factor Nuclear 1-beta del Hepatocito Tipo de estudio: Risk_factors_studies Límite: Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article Pais de publicación: Estados Unidos