SUBJECT AREA Arts entertainment
CREATED ON 8th January 2018

Essay about Cri Du Chat Syndrome Description

In 1963, Lejeune et al. released Cri du Chat (CCS), a very rare genetic syndrome which leads to a partial or complete deletion within the short expansion of their 5p (5p15.1--5p15.3) chromosome. This chromosomal reduction results in a "de novo" mutation (parents have the standard karyotype) also triggers altered brain development, leading to microencephaly and delayed psychomotor development (Mainardi, 2007). Although CCS is rare, it is among the most widespread chromosomal deletion syndromes (i.e. incidence is 1:15,000 into 1:50,000 live births) having slightly more females being affected, but without any substantial differences pertaining to race or geographical region (Rodriguez-Cabalerro, 2010). Furthermore, the incidence of CCS amongst the emotionally is less than one per cent and no immediate connection between CCS and birth order, age of parents, or more significant prenatal occasions has been established (Rodriquez-Caballero, 2010). Diagnosis is crucial and can be effectuated through karyotype investigation followed by molecular-cytogenetic analysis (FISH); 2 types are identified, irregular and average (i.e. irregular forms present with unaffected/deleted critical regions of the chromosome, and, thus, do not endure substantial learning delays). Through early diagnosis, rehabilitation, preventative methods, and surgical interventions, motor and mental operation can raise, which can result in improved social functioning and a sense of autonomy (Rodriquez-Caballero, 2010). Cri du Chat is highly variable from individual to individual, but is often characterized by low birth weight and small size, despite having a full-term pregnancy; development and growth during the first two years is markedly delayed due to feeding problems (e.g. dysphagia, muscular hypo...

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