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.
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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. The genital tract is usually normal in females, except for a report of a bicornuate uterus. In males, testes are often small, but spermatogenesis is thought to be normal.
Exceptionally, some with Cri du chat are very high-functioning and do not seem very different from developmentally typical individuals, with mostly the exception of mild learning difficulties, and do not have speech difficulties, although they may have milder facial features and a high-pitched voice due to their condition. Genetics[ edit ] Cri du chat syndrome is due to a partial deletion of the short arm of chromosome number 5, also called "5p monosomy " or "partial monosomy. These individuals may have more severe disease than those with isolated monosomy of 5p.
A recent study suggests this may not be the case where a trisomy of chromosome 4q is involved. Loss of a small region in band 5p The deletion of the telomerase reverse transcriptase hTERT gene localized in 5p Diagnosis[ edit ] Diagnosis is based on the distinctive cry and accompanying physical problems. These common symptoms are quite easily observed in infants.
Affected children are typically diagnosed by a doctor at birth. Genetic counseling and genetic testing may be offered to families with individuals who have cri du chat syndrome. Prenatally the deletion of the cri du chat related region in the p arm of chromosome 5 can be detected from amniotic fluid or chorionic villi samples with BACs-on-Beads technology. G-banded karyotype of a carrier is also useful. Intensive treatment is rarely needed in infants and they can be treated in neonatal pathology departments.
Children may be treated by speech, physical and occupational therapists. If infants have difficulty in suction or swallowing, then physical therapy should begin in the first few weeks of life.
Heart abnormalities often require surgical correction and specialist attention.
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