David Ramsay
Biology 10/ English 10
2/13/14
Cri Du Chat Cri Du Chat or 5p- is a genetic disorder which is also known as cat’s cry. When the baby is born it has a really high pitch cry when the baby is born. The history of Cri Du Chat was founded in 1963 by a genetic scientist named Jerome Lejeuna. This disorder happens when the 5th chromosome is deleted from the chromosome. This is where the chromosomal is deleted and is gives a physical appearance of downward slant on the eyes, low birth weight, slow growth, and low set of ears, small head size, low birth weight, and weak muscle tone in infancy. Affected individuals also have distinctive facial features, including widely set eyes, low-set ears, a small jaw, and a rounded face. Some children with Cri Du Chat syndrome are born with a heart defect; when the kids are born and start to get older have verbal trouble. But kids are happy and socially active when kids and adults. There are also mental aspects to cri du chat, slow development of motor skills intellectual disability, and a high pitch cat’s cry. There is no treatment for Cri Du Chat, the only thing that a person can do to help it is go to physical therapy for educational intervention and for the therapy is only physical and mental. This paper will discuss the diagnosis, causes, symptoms, and treatments of cri du chat and the lifestyle have diagnosed for Cri Du Chat. Cri Du Chat is not an inherited gene, but doctors believe that the disorder is caused by the egg or sperm cell when the parents pass a default gene to the kid and it causes the disorder of Cri Du Chat. Every 1 in 20,000 to every 1 in 50,000 kids a diagnosed with Cri Du Chat. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions. About 10 percent of people with Cri Du Chat syndrome inherit the chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement a balanced translocation, in which no genetic material is gained or lost. Translocations usually do not cause any medical problems; however, they can become unbalanced as they are passed to the next generation.
The signs of Cri Du Chat are probably related to the loss of multiple geneses the short arm of chromosome 5. CTNND2 is associated with severe intellectual disability in some people with this condition.
There is many ways to treat Cri Du Chat there is no specific treatment for Cri Du Chat as the cerebral damage resulting from the mutation occurs in the early stages of the embryonal development. Nevertheless, patients benefit from rehabilitative programs, which should be started as soon as possible and involve close collaboration with families, who must be supported psychologically. Moreover, it is important to give to the families’ updated information about the syndrome, also available through Cri Du Chat. The clinical features of Cri Du Chat patients are not specific if considered separately but, if valued as a whole; they result in a distinct phenotype which, together with the peculiar cry, allows the diagnosis to be suspected at birth. Karyotype analysis of the peripheral blood will confirm the diagnosis. In patients with an unbalanced translocation resulting in 5p deletion, the partial trisomy of the other involved chromosome may influence the clinical features. The deleted chromosome was mainly in a paternal origin, there is no phenotypic difference caused by imprinting effects. After the first years of life, the survival expectation is high and morbidity is low. However, they also showed a clinical and cytogenetic variability and highlighted a correlation between clinical severity, and the size and type of deletion. But there is a risk of recurrence is practically negligible for the cases of a de novo deletion, which are the most frequent. However, the possibility of gonadal mosaicism in one of the parents cannot be excluded, even if no recurrence has been reported up to now. It is higher for cases of balanced familial translocation. The mortality in the series studied by Niebuhr was about 10%, 75% of which occurred during the first months of life, and up to 90% within the first year. The results confirmed the importance of deletion of the critical region for manifestation of the Cri Du Chat clinical features on the human body.
This region contains a large number of repetitive sequences that may account for instability the variability correlated with the type of deletion in patients with an interstitial deletion, unbalanced translocation resulting in 5p deletion, mosaicism and other rare rearrangements. The study of patients with an interstitial deletion and with a small terminal deletion has enabled the existence of two distinct critical regions one for dysmorphisms, microcephaly and mental retardation in p15.2, and the other for the typical cry in p15.3 to be confirmed. Moreover, this study allowed the cry region defined by Overhauser et al. In patients with an unbalanced translocation resulting in 5p deletion, the partial trisomy of the other involved chromosome may influence the clinical features, even if the Cri Du Chat that phenotype prevails. The establishment of the relationship between patient genotype and phenotype in developmental syndromes is the first step toward discovery of the genetic mechanisms responsible for the symptoms and provides a basis for clinical management of the disease in patients. Numerous previous studies of chromosomal aberrations that lead to cri du chat syndrome have established the outlines of this relationship. Cytogenetic analyses had previously shown that some patients with cri du chat syndrome have complex chromosomal rearrangements, with copy-number aberrations involving other regions of the genome.