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Terminal 7p deletion and 1;7 translocation associated with craniosynostosis

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Summary

A female infant with presumptive deletion of the 7p2 region and an unusual translocation between a part of the short arm of chromosome 1 and a deleted chromosome 7 is described. The patient showed congenital craniosynostosis of the coronal and metopic sutures; marked turricephaly; hypotelorism; deeply cleft palate; shallow orbits with prominent bulging eyes; a depressed nasal bridge; anteverted nostrils; short hands with broad thin fingers and elongated thumbs; a mild talipes calcaneovalgus deformity of the feet; a systolic murmur due to a small VSD; and psychomotor retardation. The child died of bronchopneumonia at 10 weeks of age. The parents are chromosomally normal.

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References

  • Fried, K., Mundel, G., Rosenblatt, S.: De novo simultaneous reciprocal translocation and deletion. J. Med. Genet. 15, 152–164 (1978)

    PubMed  Google Scholar 

  • Friedrich, W., Lyngbye, T., Oster, J.: A girl with karyotype (46,XX,del(7)qter→p15:). Hum. Genet. 26, 161–165 (1975)

    Article  Google Scholar 

  • McPherson, E., Hall, J. G., Hickman, R.: Chromosome 7 short arm deletion and craniosynostosis: a 7p syndrome. Hum. Genet. 35, 117–123 (1976)

    PubMed  Google Scholar 

  • Paris Conference (1971). Standardization in Human Cytogenetics. Birth Defects: Original Article Series, VIII: 7. New York: The National Foundation 1972

  • Sehesled, J.: A simple method for R-banding of human chromosomes, showing a pH-dependent connection between R and G bands. Hum. Genet. 21, 55–58 (1974)

    Article  Google Scholar 

  • Sumner, A. T.: A simple technique for demonstrating centromeric heterochromatin. Exp. Cell Res. 75, 304–306 (1972)

    PubMed  Google Scholar 

  • Sumner, A. T., Evans, H. J., Buckland, R. K.: A new technique for distinguishing between human chromosomes. Nature New. Biol. 232, 31–32 (1971)

    PubMed  Google Scholar 

  • Tharapel, A. T., Summitt, R. L.: Minor chromosome variations and selected heteromorphisms in 200 unclassified mentally retarded patients and 200 normal controls. Hum. Genet. 41, 121–130 (1978)

    Article  PubMed  Google Scholar 

  • Wilson, M. G., Jujimoto, A., Shinno, N. W., Tourner, J. W.: Grant satellites or translocation? Cytogenet. Cell Genet. 12, 209–214 (1973)

    PubMed  Google Scholar 

  • Zackai, E. H., Breg, W. R.: Cytogenet. Cell Genet. 12, 40–48 (1973)

    PubMed  Google Scholar 

Download references

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Authors and Affiliations

  1. Department of Anatomy, St. Thomas' Hospital Medical School, SE1 7EH, London, England

    R. K. Dhadial

  2. Paediatric Department, The Rayne Institute, St. Thomas' Hospital, SE1 7EH, London, England

    M. F. Smith

Authors
  1. R. K. Dhadial
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  2. M. F. Smith
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Dhadial, R.K., Smith, M.F. Terminal 7p deletion and 1;7 translocation associated with craniosynostosis. Hum Genet 50, 285–289 (1979). https://doi.org/10.1007/BF00399394

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  • DOI: https://doi.org/10.1007/BF00399394

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