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MeSH Review

Cri-du-Chat Syndrome

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Disease relevance of Cri-du-Chat Syndrome


High impact information on Cri-du-Chat Syndrome


Chemical compound and disease context of Cri-du-Chat Syndrome


Gene context of Cri-du-Chat Syndrome


  1. Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion 5(p15.1q35.1). Sonoda, T., Kawaguchi, K., Ohba, K., Madokoro, H., Ohdo, S. Jinrui Idengaku Zasshi (1989) [Pubmed]
  2. A conserved ubiquitin ligase of the nuclear envelope/endoplasmic reticulum that functions in both ER-associated and Matalpha2 repressor degradation. Swanson, R., Locher, M., Hochstrasser, M. Genes Dev. (2001) [Pubmed]
  3. Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome. Zhang, A., Zheng, C., Hou, M., Lindvall, C., Li, K.J., Erlandsson, F., Björkholm, M., Gruber, A., Blennow, E., Xu, D. Am. J. Hum. Genet. (2003) [Pubmed]
  4. Association of schizophrenia and partial trisomy of chromosome 5p. A case report. Malaspina, D., Warburton, D., Amador, X., Harris, M., Kaufmann, C.A. Schizophr. Res. (1992) [Pubmed]
  5. Cytogenetic recombinants from a female carrying a paracentric inversion of the short arm of chromosome number 5. Valcárcel, E., Benítez, J., Martínez, P., Rey, J.A., Sánchez Cascos, A. Hum. Genet. (1983) [Pubmed]
  6. Growth charts for cri-du-chat syndrome: an international collaborative study. Marinescu, R.C., Mainardi, P.C., Collins, M.R., Kouahou, M., Coucourde, G., Pastore, G., Eaton-Evans, J., Overhauser, J. Am. J. Med. Genet. (2000) [Pubmed]
  7. Metabolic anomalies in cri du chat syndrome (5p-) lymphocytes and de novo purine synthesis. Peeters, M.A., Rethoré, M.O., Aris, L., Megarbane, A., Cattaneo, F., Lejeune, J. Ann. Genet. (1991) [Pubmed]
  8. Cri-du-chat syndrome in a child with a 5/15 translocation and interstitial centromeric heterochromatin. Gebauer, H.J., Stumpf, B., Hansmann, I., Grimm, T. Clin. Genet. (1978) [Pubmed]
  9. Cri du chat syndrome due to meiotic recombination in a pericentric inversion 5 carrier. Chernos, J.E., Fowlow, S.B., Cox, D.M. Clin. Genet. (1992) [Pubmed]
  10. Male infant with cat cry syndrome and apparent absence of the Y chromosome. Tolksdorf, M., Kunze, J., Rossius, H., Chiyo, H. Eur. J. Pediatr. (1980) [Pubmed]
  11. Hemifacial microsomia in cri du chat (5p-) syndrome. Neu, K.W., Friedman, J.M., Howard-Peebles, P.N. J. Craniofac. Genet. Dev. Biol. (1982) [Pubmed]
  12. Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome? Choong, Y.F., Watts, P., Little, E., Beck, L. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus. (2003) [Pubmed]
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