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Ring chromosome 15:r(15). Identification by R banding

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Summary

Upon investigating the mental retardment of a small girl who was not dysmorphic, a ring chromosome D was discovered. Thermic moderate denaturation enabled us to confirm it as being an r(15).

The r(15) syndrome scarcely affects the phenotype. On the other hand, height is consistently reduced.

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References

  • Dutrillaux, B., Lejeune, J.: Sur une nouvelle technique d'analyse du caryotype humain. C.R. Acid. Sci. (Paris) 272, 2638–2640 (1971)

    Google Scholar 

  • Forabosco, A., Dutrillaux, B., Vazzoler, G., Lejeune, J.: Chromosome 15 en anneau: r(15). Identification par dénaturation ménagée. Ann. Génét. 15, 267–270 (1972)

    Google Scholar 

  • Gilgenkrantz, S., Cabrol, C., Lausecker, C., Hartleyb, M. E., Bohe, B.: Le syndrome Dr. Etude d'un nouveau cas (46,XX,14 r). Ann. Génét. 14, 23–31 (1971)

    Google Scholar 

  • Jacobsen, P.: A ring chromosome in the 13–15 group associated with microcephalic dwarfism, mental retardation and emotional immaturity. Hereditas (Lund) 55, 188–191 (1966)

    Google Scholar 

  • Langmaid, H., Laurence, K. M.: Deletion of the long arms of the Y chromosome with normal male development and intelligence. J. med. Genet. 11, 208–211 (1974)

    Google Scholar 

  • Laurent, C.: Personal communication (1974)

  • Laurent, C., Noel, B., David, M.: Essai de classification des délétions du bras long d'un chromosome du groupe D. A propos d'un cas 15 q. Ann. Génét. 14, 33–40 (1971)

    Google Scholar 

  • Lejeune, J., Lafourcade, J., Berger, R., Cruveiller, J., Réthoré, M. O., Dutrillaux, B., Abony, D., Jerome, H.: Le phénotype Dr. Etude de trois cas de chromosome D en anneau. Ann. Génét. 11, 79–87 (1968)

    Google Scholar 

  • Mikkelsen, M., Niebuhr, E.: A ring chromosome (46,XY,13 r) occurring in a family with a D-D translocation 13-, 14-, t (13 q 14 q). Ann. Génét. 12, 51–56 (1969)

    Google Scholar 

  • Réthoré, M. O.: Personal communication to Forabosco (1972)

  • Sparkes, R. S., Carrel, R. E., Stanley, W. W.: Absent thumbs with a ring D2 chromosome: a new deletion syndrome. Amer. J. hum. Genet. 19, 644–648 (1967)

    Google Scholar 

  • Turner, B.: Cytogenetics studies in mental retardation. Proc. Aust. Ass. Neurol. 1, 41–54 (1963)

    Google Scholar 

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Stoll, C., Juif, J.G., Luckel, J.C. et al. Ring chromosome 15:r(15). Identification by R banding. Hum Genet 27, 259–262 (1975). https://doi.org/10.1007/BF00278356

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  • DOI: https://doi.org/10.1007/BF00278356

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