Summary
A male infant with karyotype 46,XY,rec(5),dup q,inv(5)(p15.1 q35.1)pat is presented. The proband showed growth and developmental retardation, complex cardiovascular abnormalities, inguinal hernia and microcephaly in addition to facial appearance and cat-like cry characteristic of the cri-du-chat syndrome. Growth and developmental retardation, and microcephly noted in this patient were markedly more serious than those observed in patients either with partial monosomy 5p or with partial trisomy 5q alone.
Similar content being viewed by others
Article PDF
References
Beemer, F.A., DeFrance, H.F., Rosina-Angelista, I.J.M., Gerards, L.J., Cats, B.P. and Guyt, R. 1984. Familial partial monosomy 5p and trisomy 5q: three cases due to paternal pericentric inversion 5(p151q333).Clin. Genet. 26: 209–215.
Carlin, M.E. and Neadle, M.M. 1978. Cri-du-chat syndrome—a correlation between abnormalies and size of deletion.Birth Defects Orig. Art. Ser. 14(6C): 428–429
Carlin, M.E. and Norman, C. 1978. Partial trisomy 12p associated with 4p deletion due to paternal t(12p−;4p+) translocation.Brith Defects Orig. Art. Ser. 14(6C): 399–406.
Ebbin, A.J., Wilson, M.G. and Towner, J.H. 1979. Recombinant of inversion 5.Clin. Res. 27: 103A.
Epstein, C.J. 1986. The consequences of chromosome imbalance.Principles, Mechanisms, and Models. Cambridge University Press, New York, pp. 12–61.
Faed, M.J.W., Marrian, V.J., Robertson, J., Robson, E.B. and Cook, P.J.L. 1972. Inherited pericentric inversion of chromosome 5: a family with history of neonatal death and a case of the “cri du chat” syndrome.Cytogenet. 11: 400–411.
Kushnick, T., Rao, K.W. and Lamb, A.N. 1984. Familial 5p-syndrome.Clin. Genet. 26: 472–476.
Martin, A.O., Northrup, H., Ledbetter, D.H., Trask, B., van den Engh, G., Le Beau, M.M., Beaudet, A.L., Gray, J.W., Sekhon, G., Krassikoff, N. and Booth, C. 1988. Prenatal detection of 46,XY,rec(5), dup q,inv(5)(p13q33) using DNA analysis, flow cytometry, andin situ hybridization to supplement classical cytogenetic analysis.Am. J. Med. Genet. 31: 643–654.
Niebuhr, E. 1978. The cri du chat syndrome. Epidemiology, cytogenetics, and clinical features.Hum. Genet. 44: 227–275
Rodewald, A., Zank, M., Gley, E.O., and Zang, K.D. 1980. Partial trisomy 5q: three different phenotypes depending on different duplication segments.Hum. Genet. 55: 191–198.
Romain, D.R., Chapman, C.J., Columbano-Green, L., Smythe, R.H. and Gebbie, O. 1982. Two pericentric inversions, inv(2)(p11q13) and inv(5)(p13q13), in a patient referred for psychiatric problems.J. Med. Genet. 19: 153–155
Schroeder, H.W.J., Forbes, S., Mach, L., Davis, S. and Norwood, T.H. 1986. Recombination aneusomy of chromosome 5 associated with multiple severe congenital malformations.Clin. Genet. 30: 285–292.
Wilkins, L.E., Brown, J.A., Nance, W.E. and Wolf, B. 1983. Clinical heterogeneity in 80 homereared children with cri du chat syndrome.J. Pediatr. 102: 528–533.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Sonoda, T., Kawaguchi, K., Ohba, Ki. et al. Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion 5(p15.1q35.1). Jap J Human Genet 34, 129–134 (1989). https://doi.org/10.1007/BF01912481
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF01912481
Key Words
This article is cited by
-
Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5
Japanese Journal of Human Genetics (1993)