Summary
Reported is the first Japanese case of partial 2p trisomy with concomitant neuroblastoma occurring in an 8 month-old boy. The family history disclosed that his father, paternal grandfather and uncle, suffering from congenital cataract and microphthalmos, were carriers of reciprocal translocation between distal segments of the short arm of Chromosomes 2 and 16 (p13, p11). The karyotype of the patient revealed an abnormally long short arm in one of the pair of Chromosome 16 that was similar to the change of Chromosome 16 found in his father and the other paternal members of his family, while Chromosome 2 appeared normal. Subsequently the patient was interpreted to be trisomic for many distal segments of 2p and monosomic for almost entire segments of 16p. Clinical features of the present case demonstrated many characteristics common to those of the reported cases of partial 2p trisomy syndrome in foreign countries. Relation of this rare chromosomal abnormality to the concomitant occurrence of neuroblastoma was briefly discussed.
References
Allderdice, P.W., Davis, J.G., and Miller, O.J. 1969. The 13q — deletion syndrome.Am. J. Hum. Genet. 21: 499–512.
Armendares, S., and Salamanca-Gómez, F. 1978. Partial 2p trisomy (p21Mpter) in two siblings of a family with a 2p−∶15q+ translocation.Clinic. Genet. 13: 17–24.
Cassidy, S.B., Heller, R.M., Chazen, E.M., and Engel, E. 1977. The chromosome 2 distal short arm trisomy syndrome.J. Pediat. 91: 934–938.
Francke, U., and Jones, K.L. 1976. The 2p partial trisomy syndrome.Am. J. Dis. Child. 130: 1244–1249.
Giangiacomo, J., Penchansky, L., Monteleone, P.L., and Thompson, J. 1974. Bilateral neonatal Wilm's tumor with B-C chromosomal translocation.J. Pediatr. 85: 98–100.
Gieser, C.F., and Schindler, A.M. 1969. Long-term survival in a male with 18-trisomy syndrome and Wilm's tumor.Pediatrics 44: 111–116.
Ozawa, H., Tanaka, Y., and Tamura, S. 1974. A case of retinoblastoma with 13q — deletion syndrome in Japanese. Presented at the 28th Actor Societities Ophthalmologicae Japonicae.
Stoll, C., Messer, J., and Vors, J. 1974. Translocation t(2;14) é quilibrée chez une mére et trisomie partielledúne partie du bras court dún chromosome No. 2 chez deux de ses enfants.Ann. Genet. 17: 193–196.
Wilsom, M.G., Melnyk, J., and Towner J.W. 1969. Retinoblastoma and deletion D(14) syndrome.J. Med. Genet. 6: 322–327.
Yamazaki, Y. 1978. A case of neuroblastoma with 3q trisomy in Japanese. Presented at the 13th Japanese society of Pediatric Surgeons in Kanto Kòshinetsu District.
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Nagano, H., Kano, Y., Kobuchi, S. et al. A case of partial 2p trisomy with neuroblastoma. Jap J Human Genet 25, 39–45 (1980). https://doi.org/10.1007/BF01876544
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DOI: https://doi.org/10.1007/BF01876544
Keywords
- Family History
- Cancer Research
- Cataract
- Neuroblastoma
- Chromosomal Abnormality
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