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Genetic disorders: Apert syndrome. Introduction Genetic disorders, refers to a medical condition which has resulted from a mutation

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GENETIC DISORDERS: APERT SYNDROME. INTRODUCTION Genetic disorders, refers to a medical condition which has resulted from a mutation to a gene or a set of genes. This causes a change in the DNA sequence. Making a normal gene change, its behaviour, causing a genetic disorder. When considering genetic disorders four areas need to be considered, chromosome abnormalities, multifactarial disorders, single gene disorders and mitochondrial disorders. Chromosome abnormality will have either, a whole chromosome, or a single segment is missing, or is altered in some way or it is duplicated. This can occur to one or more of the 46 of the Human chromosomes, which 23 genes coming from each parent; this is made up of 46 autosomes and two sex chromosomes. Single gene disorders, occur when there is a mutation to a protein product of the cell, the gene is either altered or missing. Multifactoral genes abnormally, are when there is a mutation in multiple genes, the final one is mitochondrial disorders, are very rare, and the mutations occur in the mitochondrial DNA, which is inherited from the mother. Apert syndrome is the result of a genetic mutation, which can be inherited or the result of a random mutation. Apert syndrome affects around 1 person in 200,000 live births. It is more septable to children of older fathers. ...read more.


The fantanellous allows a temporary change in the head shape, during the birthing process; this makes it easier for the baby to pass through the birthing canal. The fusion of the growth lines, of the skull means that the bones around the effected area are unable to at the correct rate, causing the Brachycephaly. The abnormal growth of the skull causes the orbits around the eyes to become shallow, and the eyes will appear to bulge. This can cause a problem known as exarbitism were the eyelids are not able to close correctly. In normal infant's skulls, three are the fontal bone, occipital bone, two partial bones and two temporal bones. They are known as the cranial bones. In between them bones are cranial sutures, which hold the bones together. The cranial is made of a strong, fibrous, elastic tissue. The cranial bones do not undergo ossification (fusion), until the child is between 12-18 months, producing the adult skull. The fontanel sutures are flexible, throughout childhood allowing the skull to expand with the rapid growth of the brain. It also prevents constriction and protects the brain from miner impacts. In Apert syndrome the bone has grown together were the fontanels and sutures should be, without the flexibility which the fantanelle and sutures allows, the brain of Apert children become constricted within the cranial bones, and can not grow adequately without surgical procedures. (see figure 3) ...read more.


Michael T. Madigan and John M Martinko(1970), Brock: Biology of Microorganisms, Prentice Hall, Eleventh Edition, Southern Illinois University Carbondale. Biochemistry (second edition), Donald Voet and Judith A. Voet, edited by Judith Rose. John Wiley and sons Inc. Molecular Mechanisms and Keinetics between DNA, and DNA binding ligands Biophysical Journal, Jan 2005, Sidchka, Andy, Toensins katia, Rainer, Wilking, Sven David. Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand, J. Anderson, HD Burns, P Enriquez-Harris, AOM Wilkie and JK Heath, Human Molecular genetics, vol 7, pg 1475-1483, (1998) Oxford University Press. Clinical assessment and multipecialty, management of Apert syndrome, Lawrence C. Kaplan MD, Clinics in plastic surgery vol 18, no 2, April 1991. Childrens cronianofacial Association: A guild to understanding Apert syndrome, Jeffrey Fearen, MD, corolyn Johnson M.S Ed, June 1993. (leaflet) Wilkie, A.O. M ET AL. Apert syndrome results from localized mutions of FGFR2 and it's allelic with Crouzan syndrome, Nature of genetic, vol 9, 1995, pg 165 -172. Internatal Journal of development in biology, vol 46, 2002, pg 817-825, Dr. P. Dvorak. Development of molecular Embryology: Targeted disruption of Fibroblast growth factor receptor, blocks maturation of visceral endoderm and cavitations in mouse embryonic bodies. Prodceding of the National Academy of sciences of United states of America, June 19, 2001, vol.98, no 13, pg 7182 - 7187, Joseph Schlessinger, Yale University School of Medicine, New Haven. Figure1: www.thecraniofacialcenter.org/.../ apert_hand.jpg Figure 2http://www.gesichtsfehlbildungen.de/images/syn2.jpg www.stronghealth.com Figure 3;www.headlines.org.uk/ images/SkullWeb.jpg ?? ?? ?? ?? Genetic disorders: Apert syndrome Melanie Pickthall 1 ...read more.

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