Cri Du Chat
Cri Du Chat is a genetic disorder that is also known as chromosome deletion 5p syndrome and also monosomy 5p syndrome. When first discovered in 1963 it was recognized as a defective B group chromosome, and was then later recognized as the fifth chromosome, or 5p. Its name is French, and means “Cry of the Cat” referring to the distinctive cry of children with this disorder. This cry can help doctors make an informed guess as to whether the baby has the disease.
Cri du chat is one of the most common syndromes caused by chromosomal deletion. The disorder affects an estimated one in fifty-thousand babies, occurs in all ethnicities and is more common in females by the ratio of 4:3. The major symptoms of Cri Du Chat include intellectual disability ranging from mild to severe, speech and language impairment varying from mild to severe, poor motor skills, short attention span and hyperactivity. Some physical symptoms are a small head (microcephaly), small jaw (micrognathia), wide-set eyes and people with the disorder will often have low birth weight and slow growth.
Cri Du Chat is a chromosomal disorder due to the partial deletion of chromosome 5. Most cases are believed to occur during the development of the egg or sperm (the male or female gamete). When this gamete is fertilized, the child will develop Cri Du Chat syndrome. The parent, however, does not have the break in any other cells of the body and therefore does not have the syndrome. In 80% of the cases, the chromosome carrying the deletion comes from the father's sperm rather than the mother's egg. The disorder is neither dominant nor recessive as it is due to the partial deletion of a chromosome and it is not hereditary.
There are a few ways of identifying Cri Du Chat however it is not as easy to identify as many other diseases or disorders. Doctors most often identify Cri Du Chat by the infant's cat-like cry; the other main signs that are utilised to identify the disorder are microcephaly (small
Cri du chat is one of the most common syndromes caused by chromosomal deletion. The disorder affects an estimated one in fifty-thousand babies, occurs in all ethnicities and is more common in females by the ratio of 4:3. The major symptoms of Cri Du Chat include intellectual disability ranging from mild to severe, speech and language impairment varying from mild to severe, poor motor skills, short attention span and hyperactivity. Some physical symptoms are a small head (microcephaly), small jaw (micrognathia), wide-set eyes and people with the disorder will often have low birth weight and slow growth.
Cri Du Chat is a chromosomal disorder due to the partial deletion of chromosome 5. Most cases are believed to occur during the development of the egg or sperm (the male or female gamete). When this gamete is fertilized, the child will develop Cri Du Chat syndrome. The parent, however, does not have the break in any other cells of the body and therefore does not have the syndrome. In 80% of the cases, the chromosome carrying the deletion comes from the father's sperm rather than the mother's egg. The disorder is neither dominant nor recessive as it is due to the partial deletion of a chromosome and it is not hereditary.
There are a few ways of identifying Cri Du Chat however it is not as easy to identify as many other diseases or disorders. Doctors most often identify Cri Du Chat by the infant's cat-like cry; the other main signs that are utilised to identify the disorder are microcephaly (small