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Chromosome 7 short-arm interstitial deletion (p14)

Summary

A 13-year-old girl presented with microcephaly, short and broad neck, low posterior hairline, congenital heart disease, limitation of joint movement, and mild mental retardation. Chromosomal analysis showed interstitial deletion of band p14 of the short arm of chromosome 7. The patient's physical and cytogenetic findings are compared with those of five other patients with 7p-deletions.

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References

  1. Arrighi, F. E., Hsu, T. C.: Staining constitutive heterochromatin and Giemsa crossbands of mammalian chromosomes. In: Human chromosome methodology, 2nd ed., J. J. Yunis, ed., pp. 59–71. New York: Academic Press 1974

  2. Bugnon, C., Bresson, J. L.: Etats de fragilité du chromosome 7 chez l'homme. Bull. Assoc. Anat. 60, 469–479 (1976)

  3. Friedrich, U., Lyngbye, T., Øster, J.: A girl with karyotype 46,XX, del (7) (qter-p15). Humangetik 26, 161–165 (1975)

  4. McPherson, E., Hall, J. G., Hickman, R., Gong, B. T., Norwood, T. H., Hoehn, H.: Chromosome 7 short arm deletion and craniosynostosis. A 7p-syndrome. Hum. Genet. 35, 117–123 (1976)

  5. Ruutu, P., Ruutu, T., Vuopio, P., Kosunen, T. U., Chapelle, A. de la: Defective chemotaxis in monosomy 7. Nature 265, 146–147 (1977)

  6. Seabright, M.: A rapid banding technique for human chromosomes. Lancet 1971 II, 971–972

  7. Wilson, M. G., Fujimoto, A., Shinno, N. W., Towner, J. W.: Giant satellites or translocation? Cytogenet. Cell Genet. 12, 209–214 (1973)

  8. Zackai, E. H., Breg, W. R.: Ring chromosome 7 with variable phenotypic expression. Cytogenet. Cell Genet. 12, 40–48 (1973)

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Correspondence to Sri J. Moedjono.

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Moedjono, S.J., Funderburk, S.J. & Sparkes, R.S. Chromosome 7 short-arm interstitial deletion (p14). Hum Genet 44, 51–57 (1978). https://doi.org/10.1007/BF00283574

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Keywords

  • Internal Medicine
  • Heart Disease
  • Metabolic Disease
  • Congenital Heart Disease
  • Congenital Heart