INTRODUCTION The DNA plays animportant role in human individual.
Human usually composed of 23 pairs of chromosomesfor a total of 46 chromosomes. Twenty-two of these are called autosomes and thelast one pair called sex chromosomes that determines if it is a male or afemale. When a child is born and undergoes development, there might be aproblem while DNA is being replicated or formed which leads to a kind ofgenetic disorder. In year 1963, Dr. Lejeune first described Cri-du-Chatsyndrome from the patients that was identified with the deletion of the short armin chromosome number 5 (Lejeune, Laforcade, Berger, 1963). Cri-du-Chat is the Frenchterm for ‘cry of the cat’ that describes one of the clinical features where anewborn infants have a high-pitched cry similar to the mew of a cat (Cornish,Munir, 1998). This kind of syndrome is very rare because it occurs only inapproximately 1 out 5000 newborn babies, but it is somewhat common causedsyndrome caused by the deletion of chromosomes (Kivi, 2017). But not generally all babies or infants willdevelop Cri-Du-Chat syndrome caused by the deletion of the chromosome number 5.
Cri-du-Chat syndrome may also cause different kinds of malformationspecifically in the head and face (Tidy, 2015). Other features that isassociated with this syndrome includes intellectual impairment, distinct facialdysmorphism, malocclusion, delayed motor development, and hyper- and hypotonia aswell as microcephally (Niebhur, 1978). Also, those individuals with Cri-Du-Chatwill likely shown to have short attention span, hyperactivity, stereotyped andaggressive behavior (Collins and Cornish, 2002) well as difficulties incommunicating other people ( Cornish and Munir, 1998; Corning & al, 1999;Kristoffersen, 2004; 2005; 2007b). In this study, it aims to have a deeperknowledge on how Cri-Du-Chat syndrome affects the internal and external bodyparts of an individual who have this kind of genetic condition and what are theadditional possible causes that leads to this disorder. PATHOPHYSIOLOGY Cri-du-Chat syndrome is caused by theincomplete deletion of the short arm in chromosomes number 5in which multiplegenes might missing that leads to the contribution of the symptoms of thissyndrome.
This one missing piece chromosome called Telomerase ReverseTranscriptase (TERT) that helps in growing of the cell and has an importantfunction on how the features of this syndrome develop (Tyagi et al, 2010). The reasonof the deletion of chromosome number is still uncertain. But in other cases, thebreakage of chromosome is during the parent’s egg cell and sperm cell isundergoing such development so this means that the syndrome happens duringfertilization (Kivi, 2017).
This case result from one parent carrying the malformationof the chromosome 5 passing it to their child (Tyagi, Kumar et al, 2010).