I sintomi e i fenotipi che ne derivano dipendono dal frammento cromosomico deleto, in particolare il "pianto del gatto" mappa nella regione 5p La regione 5p Lejeune J. C R Acad Sci —, Overhauser J.
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I sintomi e i fenotipi che ne derivano dipendono dal frammento cromosomico deleto, in particolare il "pianto del gatto" mappa nella regione 5p La regione 5p Lejeune J. C R Acad Sci —, Overhauser J. Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. Hum Mol Genet —, Schinzel A. Catalogue of unbalanced chromosome aberrations in man. Walter de Gruyter ed. Niebuhr E. Cytologic observations in 35 individuals with a 5p- karyotype.
Hum Genet —, Parental origin of chromosome 5 deletions in the cri du chat syndrome. Am J Med Genet , Medina M. Genomics —, Yuan Y. Mef2 promotes spine elimination in absence of d-catenin. Neurosci Lett , Cri du chat syndrome.
Ital J Pediatr , Cerruti Mainardi P. Andria, F. Dagna Bricarelli, G. De Marchi, A. Federico Eds. Patologia genetica ad esordio tardivo, Monduzzi, Bologna, , pp. Clinical and molecular characterization of 80 patients with 5p deletion: genotype—phenotype correlation, J Med Genet —, Guala A. Anaesthesia in Cri du Chat syndrome: an investigation on 51 Italian patients. Am J Med Genet, in press The natural history of Cri du Chat Syndrome. A report from the Italian Register. Eur J Med Genet , Liverani M.
Cri du Chat syndrome: recommendations for the care in children and adults. Kjaer I, Niebuhr E. Studies of cranial base in 23 patients with cri-du-chat syndrome suggest a cranial developmental field involved in the condition. Church DM. A high-resolution physical and transcript map of the cri du chat region of human chromosome 5p.
Genome Res. Zhang X. High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization, Am J Hum Genet —, Risk for carriers of translocations involving 5p. Am J Hum Genet , Psychomotor development in cri du chat sindrome. Clin Genet —, The Cri du Chat syndrone: a study on the quality of care. Min Ped , Nardi S. La sindrome del cri du chat.
Aspetti caratteristici e linee guida applicative.
Cri du chat syndrome
Other common findings include hypotonia , a round face with full cheeks, epicanthal folds , down-slanting palpebral fissures eyelids , strabismus , flat nasal bridge , down-turned mouth, low-set ears , short fingers , single palmar creases and cardiac defects e. Infertility is not associated with Cri du chat. It has also been observed that people with the condition have difficulties communicating. Less frequently encountered findings include cleft lip and palate , preauricular tags and fistulas , thymic dysplasia , intestinal malrotation , megacolon , inguinal hernia , dislocated hips , cryptorchidism , hypospadias , rare renal malformations e. The syndrome may also include various dermatoglyphics , including transverse flexion creases, distal axial triradius, increased whorls and arches on digits and a single palmar crease. Late childhood and adolescence findings include significant intellectual disability, microcephaly , coarsening of facial features, prominent supraorbital ridges , deep-set eyes, hypoplastic nasal bridge, severe malocclusion and scoliosis. Affected females reach puberty, develop secondary sex characteristics and menstruate at the usual time.
Síndrome cri-du-chat: sintomas, tratamentos e causas
Síndrome de Cri Du Chat