Neuroblastoma in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q.
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.
Koiffmann
C P
CP
Department of Biology, Bioscience Institute, Faculty of Medicine, University of São Paulo, Brazil.
Gonzalez
C H
CH
Vianna-Morgante
A M
AM
Kim
C A
CA
Odone-Filho
V
V
Wajntal
A
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D007621:Karyotyping; D008214:Lymphocytes / Q000473:pathology; D008297:Male; D009447:Neuroblastoma / Q000150:complications / Q000235:genetics*