European Journal of Pediatrics

, Volume 133, Issue 3, pp 293–296 | Cite as

Male infant with cat cry syndrome and apparent absence of the Y chromosome

  • M. Tolksdorf
  • J. Kunze
  • H. Rossius
  • H. Chiyo
Case Reports

Abstract

We report a boy with cri-du-chat syndrome and apparent absence of the Y chromosome.The karyotype is interpreted as 45,X,del(5)(qter→p13:). The boy has normal male external genitalia and bilateral testes although no Y chromosome was found in lymphocytes or fibroblasts.

Key words

Cri-du-chat syndrome Absence of Y chromosome Male phenotype Male external genitalia 

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References

  1. Forabosco, A., Carratu, A., Assuma, M., de Pol, A., Dutrillaux, B., Cheli, E.: Male with 45,X karyotype. Clin. Genet. 12, 97–100 (1977)Google Scholar
  2. Lejeune, J., Lafourcade, J., Berger, R., Vialatte, J., Boeswill-wald, M., Seringe, P., Turpin, R.: Trois cas de délétion partielle du bras court d'un chromosome 5. C. R. Acad. Sci. (D) (Paris) 257, 3098–3102 (1963)Google Scholar
  3. Lo Curto, F., Pucci, E., Scappaticci, S., Scotta, S., Severi, F., Burgio, G. R., Fraccaro, M.: XO and male phenotype. Am. J. Dis. Child. 128, 90–91 (1974)Google Scholar
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  5. Vignetti, P., Chessa, L., Bruni, L., Ferrante, E., Dallapiccola, B.: Translocation Y/5 resulting in cri du chat syndrome. Clin. Genet. 12, 319–322 (1977)Google Scholar

Copyright information

© Springer-Verlag 1980

Authors and Affiliations

  • M. Tolksdorf
    • 1
  • J. Kunze
    • 1
  • H. Rossius
    • 1
  • H. Chiyo
    • 2
  1. 1.Department of PediatricsUniversity of KielKielFederal Republic of Germany
  2. 2.Department of GeneticsHyogo College of MedicineHyogoJapan

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