Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome.

Marakhonov, Andrey V; Vasilyeva, Tatyana A; Minzhenkova, Marina E; Sukhanova, Natella V; Sparber, Peter A; Andreeva, Natalya A; Teleshova, Margarita V; Baybagisova, Fatima K-M; Shilova, Nadezhda V; Kutsev, Sergey I; Zinchenko, Rena A

Marakhonov, Andrey V; Vasilyeva, Tatyana A; Minzhenkova, Marina E; Sukhanova, Natella V; Sparber, Peter A; Andreeva, Natalya A; Teleshova, Margarita V; Baybagisova, Fatima K-M; Shilova, Nadezhda V; Kutsev, Sergey I; Zinchenko, Rena A.

Afiliação

Marakhonov AV; Research Centre for Medical Genetics, Moscow 115522, Russia.
Vasilyeva TA; Research Centre for Medical Genetics, Moscow 115522, Russia.
Minzhenkova ME; Research Centre for Medical Genetics, Moscow 115522, Russia.
Sukhanova NV; Research Centre for Medical Genetics, Moscow 115522, Russia.
Sparber PA; Research Centre for Medical Genetics, Moscow 115522, Russia.
Andreeva NA; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow 117997, Russia.
Teleshova MV; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow 117997, Russia.
Baybagisova FK; Medical Center "Evromed", Cherkessk 369000, Russia.
Shilova NV; Research Centre for Medical Genetics, Moscow 115522, Russia.
Kutsev SI; Research Centre for Medical Genetics, Moscow 115522, Russia.
Zinchenko RA; Research Centre for Medical Genetics, Moscow 115522, Russia.

Int J Mol Sci ; 24(23)2023 Nov 29.

Article em En | MEDLINE | ID: mdl-38069245

Assuntos

Aniridia; Neoplasias Renais; Síndrome WAGR; Tumor de Wilms; Masculino; Humanos; Lactente; Síndrome WAGR/diagnóstico; Síndrome WAGR/genética; Síndrome WAGR/patologia; Deleção Cromossômica; Aniridia/diagnóstico; Aniridia/genética; Tumor de Wilms/genética; Neoplasias Renais/genética; Cromossomos Humanos Par 11/genética; Inversão Cromossômica

Palavras-chave

LMO2; PAX6; WAGR syndrome; WT1; Wilms tumor; complex chromosomal rearrangement; congenital aniridia; genetic testing; nephroblastoma

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aniridia / Síndrome WAGR / Tumor de Wilms / Neoplasias Renais Limite: Humans / Infant / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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