Cri du Chat By: Taylor Palacino
How it is inherited… Occurs with a deletion in the end of the arm of chromosome 5 The deletion happens randomly when egg or sperm are formed and it can also occur in early fetal development Most of the people with the disorder have no family history of it Only 10% of the affected people inherit the deletion from a parent
Continued… Normally one parent has a chromosomal rearrangement called a balanced translocation which becomes unbalanced when it is passed on The unbalanced translocation is what creates the missing genetic material from the chromosome
Signs and Symptoms Children have a high pitched cry like a cats Downward slanted eyes Unusually low weight at birth and hindered growth development Strangely shaped ears Mental disabilities Abnormally wide set eyes Hindered motor skills Unusually small head and jaw
Continued… Heart, muscle, and skeletal problems Behavioral issues
Population Statistics In the United States the disorder occurs in 1 of 200,000 to 500,000 births People with mental retardation have an occurrence of 1.5 in 1000 No race is more predisposed to the disorder Females are more likely to get it, the ratio of male to female is o.72 : 1 It afflicts less than 200,000 people in the United States