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Mosaic tetrasomy 21 in severe mental handicap

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Abstract

A 5-year-old boy with severe mental handicap, dysmorphic stigmata and a tetrasomy 21 in fibroblasts is reported. Blood lymphocytes of the patient have a normal karyotype. The origin of this tetrasomy 21 mosaicism is discussed.

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References

  • Abe T, Morita M, Kawai K, Misawa S, Takino T, Hashimoto H, Nakagome Y (1977) Partial tetrasomy 9(9pter to 9q2101) due to an extra iso-dicentric chromosome. Ann Génét 20:111–114

    Google Scholar 

  • Côtè GB, Petmezaki S, Bastakis N (1979) A gene for hypospadias in a child with presumed tetrasomy 18p. Am J Med Genet 4:141–146

    Google Scholar 

  • Eydoux P, Junien C, Despoisse S, Chassevent J, Bibring C, Gregori C (1981) Gene dosage effect for GALT in 9p trisomy and in 9p tetrasomy with an improved technique for GALT determination. Hum Genet 57:142–144

    Google Scholar 

  • Ghymers D, Hermann B, Disteche C, Frederic J (1974) Tetrasomie partielle du chromosome 9, à l' état de mosaïque, chezu un enfant porteur de malformations multiples. Hum Genet 20:273–282

    Google Scholar 

  • Machin GA, Crolla JA (1974) Chromosome constitution of 500 infants dying during the perinatal period. Hum Genet 23:183–198

    Google Scholar 

  • Moedjono SJ, Crandall BF, Sparkes RS (1980) Tetrasomy 9p: confirmation by enzyme analysis. J Med Genet 17:227–230

    Google Scholar 

  • Orye E, Verhaaren H, Van Egmond H, Devloo-Blancquaert A (1975) A new case of the trisomy 9p syndrome. Report of a patient with unusual chromosome findings (46, XX/47, XX,+i(9p)) and a peculiar congenital heart defect. Clin Genet 7:134–143

    Google Scholar 

  • Polani PE, Hamerton JL, Gianelli F, Carter CO (1965) Cytogenetics of Down's syndrome (mongolism). III. Frequency of interchange trisomies and mutation rate of chromosome interchanges. Cytogenetics 4:193–206

    Google Scholar 

  • Rutten FJ, Scheres JM, Hustinx TW, Ter Haar BG (1974) A presumptive tetrasomy for the short arm of chromosome 9. Hum Genet 25:163–170

    Google Scholar 

  • Schinzel A, Schmid W, Fraccaro M, Tiepolo L, Zuffardi O, Opitz JM, Lindsten J, Zetterqvist P, Enell H, Baccichetti C, Tenconi R, Pagon RA (1981) The “Cat-eye” syndrome: dicentric small marker chromosome probably derived from a no. 22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture. Hum Genet 57:148–158

    Google Scholar 

  • Wisniewski L, Politis GD, Higging JV (1979) Partial tetrasomy 9 in a liveborn infant. Clin Genet 14:147–153

    Google Scholar 

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Fryns, J.P., Petit, P., Vinken, L. et al. Mosaic tetrasomy 21 in severe mental handicap. Eur J Pediatr 139, 87–89 (1982). https://doi.org/10.1007/BF00442089

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  • DOI: https://doi.org/10.1007/BF00442089

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