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Ring chromosome 7: Report of the fifth case

  • Medical Genetics
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A 13-year-old boy with a 46,XY,r(7) karyotype presented with growth failure, microcephaly, achromic spots and multiple pigmented naevi. Psychomotor development was normal and no major malformations were present. Comparison with four previously reported patients with ring chromosome 7 shows that the most frequent findings in these subjects were short stature, microcephaly and dermatological abnormalities.

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  1. Cote GB, Katsantoni A, Deligeorgis D, Pandella E (1981) The cytogenetic and clinical implications of a ring chromosome 2. Ann Genet 24:231–235

    Google Scholar 

  2. DeLozier-Blanchet CD, Guenin R (1984) Cytogenetics of ring chromosome 7. Clin Genet 25:84–87

    Google Scholar 

  3. DeLozier CD, Theintz G, Sizonenko P, Engel E (1982) A fourth case of ring chromosome 7. Clin Genet 22:90–98

    Google Scholar 

  4. Kosztolanyi G (1987) Does “'ring syndrome” exist? An analysis of 207 case reports on patients with a ring autosome. Hum Genet 75:174–179

    Google Scholar 

  5. Nakano S, Miyamoto N (1977) A ring C7 chromosome in a mentally and physically retarded male with various somatic abnormalities. Jpn J Hum Genet 22:33–41

    Google Scholar 

  6. Schomig-Spingler M, Schmid M, Brosi W, Grimm T (1986) Chromosome 7 short arm deletion, 7p21→pter. Hum Genet 74:323–325

    Google Scholar 

  7. Zackai EH, Breg WR (1973) Ring chromosome 7 with variable phenotypic expression. Cytogenet Cell Genet 12:40–48

    Google Scholar 

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Caramia, G.M., Baroncini, A., Osimani, P. et al. Ring chromosome 7: Report of the fifth case. Eur J Pediatr 149, 475–476 (1990).

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