Abstract
We report on the clinical observation of a girl patient with few signs of cri-du-chat syndrome. The chromosomal analysis in lymphocyte culture showed 46,XX,del(5)(p15.3) in 38% of cells. Psychological tests revealed motor, perceptive and visual-spatial problems, as well as immaturity and emotional dependence. The phoniatric evaluation showed poor vocabulary, difficulty with repeating words or numbers in sequence, and better receptive than expressive language. The spectrographic measurements showed disturbance of fundamental frequency (F0) in vocal pronunciation. The anatomic findings of the laryngoscopic evaluation were normal, indicating that the voice and speech problems were functional disorders. The present case revealed moderate clinical signs and vocal disturbance associated with a low percentage of 5p-cells and the breakpoint at 5p15.3. The short terminal deletion with a possible loss of the critical region for cat-like cry and the presence of a normal cell line, explain the cry not so typical at birth (weak but not high-pitched), the intermediate values of F0, and the moderate mental retardation. This case is compared with other mosaic 5p-patients reported in the literature.
Similar content being viewed by others
References
Angelini AL, Alves ICB, Custódio EM, Duarte WF, Duarte JLM, 1999. Matrizes Progressivas Coloridas de Raven. Manual. Sâo Paulo: Centro Editor de Testes e Pesquisas em Psicologia.
Bellak L, Bellak SS, 2000, Manual para o Suplemento do Teste de Percepçâao Infantil (CAT-A). Sâo Paulo: Editora Livro Pleno.
Behlau M, 2001. Avaliaçâo acústica do sinal sonoro. In: Voz — O livro do especialista. Rio de Janeiro: Editora Revinter.
Chen C-P, Lee C-C, Chang T-Y, et al. 2004. Prenatal diagnosis of mosaic distal 5p deletion and review of the literature. Prenatal Diagnosis 24: 50–57.
Clawson A, 1992. Bender infantil: Manual de diagnóstico clínico, 7th ed. Porto Alegre: Artes Médicas.
Cornish KM, Bramble D, Munir F, Pigram J, 1999. Cognitive functioning in children with typical cri du chat (5p-) syndrome. Developmental Medicine and Child Neurology 41: 263–266.
Gersh M, Goodart SA, Pasztor LM, et al. 1995. Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. American Journal of Human Genetics 56: 1404–1410.
Hammer E, 1991. Aplicaçőes clínicas dos desenhos projetivos. Sâo Paulo: Ed. Casa do Psicólogo.
Kolck OLV, 1968. Interpretação psicológica de desenhos. São Paulo: Biblioteca Pioneira de Cięncias Sociais.
Kjaer I, Niebuhr E, 1999. Studies of the cranial base in 23 patients with Cri-du-Chat syndrome suggest a cranial developmental field involved in the condition. American Journal of Medical Genetics 82: 6–14.
Lejeune J, Lafourcade J, Berger R, et al. 1963. Trois cas de delétion partielle du bras court d’une chromosome 5. Comptes Rendues de l’Académie des Sciences 257: 3098–102.
Mainardi PC, Pastore G, Castronovo C, Godi M, Guala A, Tamiazzo S, et al. 2006. The natural history of Cri du Chat Syndrome. A report from the Italian Register, European Journal of Medical Genetics 49: 363–383.
Niebuhr E, 1978a. The cri du chat syndrome. Epidemiology, cytogenetics and clinical features. Human Genetics 44: 227–275.
Niebuhr E, 1978b. Cytologic observations in 35 individuals with 5p-karyotype. Human Genetics 42: 143–156.
Overhauser J, Huang X, Gersh M, et al. 1994. Molecular and phenotypic mapping of the short arm of chromosome 5: sub localization of the critical region to cri du chat syndrome. Human Molecular Genetics 3: 247–252.
Perfumo C, Mainardi P, Cali A, et al. 2000. The first three mosaic cri du chat syndrome patients with two rearranged cell lines. Journal of Medical Genetics 37: 967–972.
Philip J, Brandt NJ, Friis-Hansen B, et al. 1970. A deleted B chromosome in a mosaic mother and her Cri du Chat progeny. Journal of Medical Genetics 7: 33–36.
Romano C, Ragusa RM, Scillato F, 1991. Phenotypic and phoniatric findings in mosaic cri du chat syndrome. American Journal of Medical Genetics 39: 391–393.
Schinzel A, 2001. Catalogue of unbalanced chromosome aberrations in man, 2nd ed. Walter de Gruyter, Berlin; New York.
Shaffer LG, Tommerup N, ISCN 2005. In: Karger S, Basel, eds. An International System for Human Cytogenetic Nomenclature.
Zellweger H, 1966. Cri-du-Chat with mosaicism. Lancet 2: 57.
Weis MLL, 1997. Provas do diagnóstico operatório. In: Psicopedagogia Clínica: uma visão diagnostica dos problemas de aprendizagem escolar. 3rd. Rio de Janeiro: DP&A.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Moreira, L.M.d.A., de Carvalho, A.F.L., Borja, A.L.V.d.F. et al. Mosaic cri-du-chat syndrome in a girl with a mild phenotype. J Appl Genet 49, 415–420 (2008). https://doi.org/10.1007/BF03195641
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF03195641