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XXXXY syndrome in a phenotypic male infant with associated cardiac abnormalities

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Summary

A boy with 49,XXXXY karyotype is described with only mild mental retardation at 18 months. Physical abnormalities included patent ductus arteriosus, undescended testes, small penis, bilateral epicanthal folds, and incurved 5th digits with small middle phalanges. Literature review showed 7 previous cases of XXXXY patients with congenital heart disease. 23% of buccal cells showed 1 sex chromatin body; 26% showed 2 and 11% 3. Autoradiography demonstrated 3 heavily labelled X chromosomes. The heteropyknotic behavior of X Chromosomes in excess of one may provide some measure of protection against excessive numbers of X chromosomes, bence the relatively normal development of some XXXXY patients.

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References

  • Atkins, L., Böök, J. A., Gustavson, K. H., Hansson, O., Hjelm, M.: A case of XXXXY sex chromosome anomaly with autoradiographic studies. Cytotenetics 2, 208–232 (1963).

    Google Scholar 

  • —, Connely, J. P.: XXXXY sex-chromosome abnormality. Amer. Dis. Childh. 106, 514–519 (1963).

    Google Scholar 

  • Barr, M. L., Carr, D. H., Pozsonyi, J., Wilson, R. A., Dunn, H. G., Jacobson, T. S., Miller, J. R., Lewis, M., Chown, B.: The XXXXY ses chromosomes abnormality. Canad. med. Ass. J. 87, 891–901 (1962).

    Google Scholar 

  • Blatch, S., Coles, H. M. T.: Klinefelter's syndrome (XXXXY variant). Proc. roy. Soc. Med. 57, 842 (1964).

    Google Scholar 

  • Eliachar, E., Duhamel, B., Bardaux, M.: A new case of XXXXY syndrome. Ann. Pédiat. 15, 479–481 (1968).

    Google Scholar 

  • Ferguson-Smith, M. A.: Testes and Intersexuality. In: Paediatric Endocrinology, Chapter 7, pp. 359–393, Ed. by Douglas Hubble. Philadelphia: Davis 1969.

    Google Scholar 

  • Fraccaro, M., Lindsten, J.: A child with 49 chromosomes. Lancet 1960 II, 1303.

    Google Scholar 

  • Galindo, J., Baar, H. S.: The XXXXY sex chromosome abnormality. Arch. Dis. Childh. 41, 82–86 (1966).

    Google Scholar 

  • Gedikoglu A. G.: A very rare case of Klinefelter syndrome, mental retardation, sex-chromosome abnormalities. Istanbul Üniv. Tip Fak. Mec. 30, 236–244 (1967).

    Google Scholar 

  • Grumbach, M. M., Morishima, A.: Sex chromatin and the sex chromosomes: On the origin of sex chromatin from a single X chromosome. Acta Cytol. (Philad.) 6, 46–60 (1962).

    Google Scholar 

  • Hubner, H., Baszczynski, J., Jeske, J., Labuz-Laciakowa A.: A case of multiple congenital malformations with the predominance of karyotype XXXXY. Pol. Med. Sci. Hist. 12, 17–22 (1969).

    Google Scholar 

  • Joannides, R., Tsenki, C.: A child with 49 chromosomes (XXXXY). Ber. dtsch. ophthal. Ges. 69, 419–420 (1969).

    Google Scholar 

  • Joseph, M. C., Anders, J. M., Taylor, A. T.: A boy with XXXXY sex chromosome. J. Med. Genet. 1, 95–101 (1964).

    Google Scholar 

  • Klinefelter, H. F., Jr., Reifenstein, E. C., Jr., Albright, F.: Gynecomastia, aspermatogenesis without a-Leydigism and increased excretion of follicle-stimulating hormone. J. clin. Endocr. 2, 615–627 (1942).

    Google Scholar 

  • Lauritzen, J., Froland, A., Johnsen, S. G.: Sex differentiation in the XXXXY chromosome constitution. Acta path. microbiol. scand. 65, 321–328 (1965).

    Google Scholar 

  • Ohno, S.: Dynamics of the condensed female X chromosome. Lancet 1963 I, 273–274.

    Google Scholar 

  • Rowley, J., Muldal, S., Gilbert, C. W., Lajtha, L. G., Lindsten, J., Fraccaro, M., Kaijser, K.: Synthesis of deoxyribonucleic acid on X-chromosomes of an XXXXY male. Nature (Lond.) 197, 251–252 (1963).

    Google Scholar 

  • Shapiro, L. R., Hsu, L. Y., Calvin, M. E., Hirschhorn, K.: XXXXY boy. A 15-month-old child with normal intellectual development. Amer. J. Dis. Child. 119, 79–81 (1970).

    Google Scholar 

  • Zaleski, W. A., Houston, C. S., Pozsonyi, J., Ying, K. L.: The XXXXY chromosome anomaly. Report of three new cases and review of 30 cases from the literture. J. Canad. Med. Ass. 94, 1143–1154 (1966).

    Google Scholar 

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Authors and Affiliations

  1. The Genetic and Endocrine Unit, Department of Pediatrics, State University of New York Upstate Medical Center, 13210, Syracuse, New York, USA

    Salma Regina Assemany, Richard L. Neu & Lytt I. Gardner

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  1. Salma Regina Assemany
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  2. Richard L. Neu
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  3. Lytt I. Gardner
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Additional information

This study was supported in part by research grant AM-02504 from the National Institute of Arthritis and Metabolic Diseases U.S. Public Health Service.

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Assemany, S.R., Neu, R.L. & Gardner, L.I. XXXXY syndrome in a phenotypic male infant with associated cardiac abnormalities. Hum Genet 12, 101–104 (1971). https://doi.org/10.1007/BF00291464

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  • DOI: https://doi.org/10.1007/BF00291464

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