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Ring chromosome 10 Associated with multiple congenital malformations

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A 46,XY,r(10) karyotype was found in lymphocytes and skin fibroblasts cultured from a 8-month-old male showing multiple malformations and severe mental retardation. A comparison of the clinical features observed in cases in which a 10 ring was identified by means of banding techniques has been also attempted.

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  1. Fried, K., Rosenblatt, M., Mundel, A., Krikler, R.: Mental retardation and congenital malformations associated with a ring chromosome 6. Clin. Genet. 7, 192–196 (1975)

  2. Fryns, J. P., De Boeck, K., Jaeken, J., Van den Berghe, H.: Malformative syndrome associated with a ring 10 chromosome and a translocated 10q/19 chromosome. Hum. Genet. 43, 239–244 (1978)

  3. Lansky, S., Daniel, W., Fleiszar, K.: Physical retardation associated with ring chromosome mosaicism: 46,XX,r(10)/45,XX,10-. J. Med. Genet. 14, 61–63 (1977)

  4. Nakajiama, S., Yanagisawa, M., Kamoshita, S., Nakogomi, Y.: Mental retardation and congenital malformations associated with a ring 9 chromosome. Hum. Genet. 32, 289–293 (1976)

  5. Pfeiffer, R. A., Lenard, H. G.: Ringchromosom 8 (46,XY,8r) bei einem debilen Jungen. Klin. Paediatr. 185 187–191 (1973)

  6. Sparkes, S. R., Ling, S. M., Muller, H.: Ring 10 chromosome: 46,XX,r10(p15;q26). Hum. Genet. 43, 341–345 (1978)

  7. Valente, M., Muller, H., Sparkes, R. S.: Ring 11 chromosome (46,XX,r11)(p15;q25). Hum. Genet. 36, 345–350 (1977)

  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 G. Simoni.

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Simoni, G., Rossella, F., Dalprà, L. et al. Ring chromosome 10 Associated with multiple congenital malformations. Hum Genet 51, 117–121 (1979). https://doi.org/10.1007/BF00287164

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  • Internal Medicine
  • Metabolic Disease
  • Mental Retardation
  • Congenital Malformation
  • Skin Fibroblast