一名患有MCA/MR综合征、11q缺失和12q重复的男孩患神经母细胞瘤。

Neuroblastoma in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q.

作者信息

Koiffmann C P, Gonzalez C H, Vianna-Morgante A M, Kim C A, Odone-Filho V, Wajntal A

机构信息

Department of Biology, Bioscience Institute, Faculty of Medicine, University of São Paulo, Brazil.

出版信息

Am J Med Genet. 1995 Jul 31;58(1):46-9. doi: 10.1002/ajmg.1320580110.

DOI:10.1002/ajmg.1320580110

PMID:7573155

Abstract

Deletion 11q23-->qter and duplication 12q23-->qter are described in a boy with neuroblastoma, multiple congenital anomalies, and mental retardation. The patient has clinical manifestations of 11q deletion and 12q duplication syndromes. The possible involvement of the segment 11q23-->24 in the cause of the neuroblastoma is discussed.

摘要

在一名患有神经母细胞瘤、多种先天性异常和智力迟钝的男孩中，发现了11号染色体长臂23区至末端缺失以及12号染色体长臂23区至末端重复。该患者具有11号染色体长臂缺失和12号染色体长臂重复综合征的临床表现。文中讨论了11号染色体长臂23区至24区片段可能与神经母细胞瘤病因有关。