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Each cell of your body contains chromosomes which are made up of many genes.In general, each cell in your body contains 46 chromosomes arranged in 23 pairs.Cri du chat syndrome is a chromosome problem caused by a missing piece of chromosome 5.The syndrome is called cri du chat (French for cry of the cat) because affected babies often have a high-pitched cry.However, babies with some chromosome abnormalities may survive but are affected by various medical problems (called a syndrome).The missing piece of the chromosome is the short (called 'p') arm of chromosome 5.
'Genetic' means that the condition is passed on through families by special codes called genes.See the separate leaflets called Amniocentesis, Chorionic Villus Sampling and Ultrasound Scan.Diagnosis after birth will be made by investigations if a baby has any features suggesting cri du chat syndrome. The parents of a child with cri du chat syndrome should also have genetic testing to find out whether one parent has a change in chromosome 5.Therefore cri du chat syndrome is said to be caused by deletion of chromosome 5p.Most cases are thought to occur as a result of damage to the chromosome during the development of the egg or sperm.
Not all babies with the missing piece of chromosome 5 will develop cri du chat syndrome.