INTRODUCTION sex chromosomes that determines if it is

INTRODUCTION

            The DNA plays an
important role in human individual. Human usually composed of 23 pairs of chromosomes
for a total of 46 chromosomes. Twenty-two of these are called autosomes and the
last one pair called sex chromosomes that determines if it is a male or a
female. When a child is born and undergoes development, there might be a
problem while DNA is being replicated or formed which leads to a kind of
genetic disorder. In year 1963, Dr. Lejeune first described Cri-du-Chat
syndrome from the patients that was identified with the deletion of the short arm
in chromosome number 5 (Lejeune, Laforcade, Berger, 1963). Cri-du-Chat is the French
term for ‘cry of the cat’ that describes one of the clinical features where a
newborn 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 in
approximately 1 out 5000 newborn babies, but it is somewhat common caused
syndrome caused by the deletion of chromosomes (Kivi, 2017).  But not generally all babies or infants will
develop Cri-Du-Chat syndrome caused by the deletion of the chromosome number 5.
Cri-du-Chat syndrome may also cause different kinds of malformation
specifically in the head and face (Tidy, 2015). Other features that is
associated with this syndrome includes intellectual impairment, distinct facial
dysmorphism, malocclusion, delayed motor development, and hyper- and hypotonia as
well as microcephally (Niebhur, 1978). Also, those individuals with Cri-Du-Chat
will likely shown to have short attention span, hyperactivity, stereotyped and
aggressive behavior (Collins and Cornish, 2002) well as difficulties in
communicating other people ( Cornish and Munir, 1998; Corning & al, 1999;
Kristoffersen, 2004; 2005; 2007b). In this study, it aims to have a deeper
knowledge on how Cri-Du-Chat syndrome affects the internal and external body
parts of an individual who have this kind of genetic condition and what are the
additional possible causes that leads to this disorder.  

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PATHOPHYSIOLOGY

            Cri-du-Chat syndrome is caused by the
incomplete deletion of the short arm in chromosomes number 5in which multiple
genes might missing that leads to the contribution of the symptoms of this
syndrome. This one missing piece chromosome called Telomerase Reverse
Transcriptase (TERT) that helps in growing of the cell and has an important
function on how the features of this syndrome develop (Tyagi et al, 2010). The reason
of the deletion of chromosome number is still uncertain. But in other cases, the
breakage of chromosome is during the parent’s egg cell and sperm cell is
undergoing such development so this means that the syndrome happens during
fertilization (Kivi, 2017). This case result from one parent carrying the malformation
of the chromosome 5 passing it to their child (Tyagi, Kumar et al, 2010).