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

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.

• Authors: C P Koiffmann, C H Gonzalez, A M Vianna-Morgante, C A Kim, V Odone-Filho, A Wajntal
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 58 Issue 1 Pg. 46-9 (Jul 31 1995) ISSN: 0148-7299 [Print] United States
• PMID: 7573155 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review)

Topics

• Abnormalities, Multiple (genetics)
• Adult
• Chromosome Aberrations
• Chromosome Banding
• Chromosome Deletion
• Chromosome Disorders
• Chromosome Mapping
• Chromosomes, Human, Pair 11
• Chromosomes, Human, Pair 12
• Female
• Humans
• Infant
• Intellectual Disability (complications, genetics)
• Karyotyping
• Lymphocytes (pathology)
• Male
• Neuroblastoma (complications, genetics)