Interstitial deletion 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with clubfoot, blepharophimosis, arthrogryposis, and multiple congenital abnormalities.

Balta, Burhan; Erdogan, Murat; Ergul, Ayse B; Sahin, Yavuz; Ozcan, Alper

Balta, Burhan; Erdogan, Murat; Ergul, Ayse B; Sahin, Yavuz; Ozcan, Alper.

Afiliación

Balta B; Department of Medical Genetics, Kayseri Training and Research Hospital, Kayseri, Turkey.
Erdogan M; Department of Medical Genetics, Kayseri Training and Research Hospital, Kayseri, Turkey.
Ergul AB; Department of Pediatrics, Kayseri Training and Research Hospital, Kayseri, Turkey.
Sahin Y; Department of Medical Genetics, NecipFazil State Hospital, Kahramanmaras, Turkey.
Ozcan A; Departments of Pediatrics, Department of Pediatric Hematology Oncology, Erciyes University, Kayseri, Turkey.

Am J Med Genet A ; 173(10): 2798-2802, 2017 Oct.

Article en En | MEDLINE | ID: mdl-28815864

Asunto(s)

Artrogriposis/genética; Blefarofimosis/genética; Deleción Cromosómica; Cromosomas Humanos Par 5; Pie Equinovaro/genética; Anomalías Congénitas/genética; Adulto; Artrogriposis/complicaciones; Artrogriposis/patología; Blefarofimosis/complicaciones; Blefarofimosis/patología; Preescolar; Pie Equinovaro/complicaciones; Pie Equinovaro/patología; Anomalías Congénitas/patología; Femenino; Humanos; Lactante; Masculino; Pronóstico

Palabras clave

5p deletion syndrome; 5q deletion; arthrogryposis; clubfoot; microarray analysis

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Artrogriposis / Anomalías Congénitas / Cromosomas Humanos Par 5 / Pie Equinovaro / Deleción Cromosómica / Blefarofimosis Tipo de estudio: Prognostic_studies Límite: Adult / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2017 Tipo del documento: Article

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