In such cases, the parent is a carrier of a balanced translocation (a chromosomal rearrangement) in which no genetic component is lost or gained.Typically, victims do not have any family history of the syndrome.This content reflects information from various individuals and organizations and may offer alternative or opposing points of view.
A small number of cases arise due to passing of a varying, rearranged form of the 5 chromosome from parents to baby.
It is still unclear as to how the loss of genes results in the problems associated with Cri du chat. Only around 10% patients inherit the chromosomal abnormality from one unaffected parent.
An example of a chromosomal genetic disorder is Down syndrome.
Down syndrome is the result of an extra, third copy of chromosome 21 being present in a person.
Genes provide instructions for building proteins that help bodies grow and function properly.
Chromosomal genetic disorders occur when chromosomes are partially or completely missing, altered or duplicated.
The ARC staffer suggested that guardianship would “take away all of Nellie’s rights” and that Nellie’s needs could possibly be met with a simple health care proxy.
This was unexpected advice and undermined Amy’s confidence in moving forward with the guardianship.
Also called cat’s cry or 5P- 5P minus syndrome, it’s a deletion on the short arm of chromosome 5.. This section is a basic introduction to Cri du Chat Syndrome.