Cri du chat in adults
Mortality was higher in patients with unbalanced translocations resulting in 5p deletions.Our data confirm that the cat-like cry and peculiar timbre of voice are the most typical signs of the syndrome, not only at birth but also later and these are the only signs which might suggest the diagnosis in patients with small deletions and mild clinical picture.The majority of cases are supposed to arise during development of the sperm or the egg.
In such cases, the parent is a carrier of a balanced translocation (a chromosomal rearrangement) in which no genetic component is lost or gained.
A cytogenetic and clinical variability must be underlined.
Cardiac, cerebral, renal and gastrointestinal malformations were more frequent in the patients with unbalanced translocations resulting in 5p deletions.
The diagnosis was made in the first month of life in 42% and within first year in 82% of cases.
The remaining 18% were diagnosed at an age ranging from 13 months to 47 years.
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Two of the 13 patients died and brain findings at autopsy are reported.