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Nearly all children with 5p- Syndrome have poor muscle tone when they are young.

Other characteristics may include feeding difficulties, delays in walking, hyperactivity, scoliosis, and significant retardation.

The risk should be assessed based on the type of structural rearrangement and its pattern of segregation.

The main clinical features are a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics, and severe psychomotor and mental retardation.A small percentage of infants with cri-du-chat syndrome are born with serious organ defects (especially heart or kidney defects) or other life-threatening complications that can result in death.Most fatal complications occur before the child’s first birthday.Malformations, although not very frequent, may be present: cardiac, neurological and renal abnormalities, preauricular tags, syndactyly, hypospadias, and cryptorchidism.Molecular cytogenetic analysis has allowed a cytogenetic and phenotypic map of 5p to be defined, even if results from the studies reported up to now are not completely in agreement.




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