Cri du chat syndrome cry Video
West Syndrome cri du chat syndrome cry.Definition Cri du chat syndrome occurs when a piece of chromosomal material is missing from a particular region on chromosome 5.
The disorder is also called cat cry syndrome or chromosome deletion 5p syndrome. Individuals with crt syndrome have unusual facial features, poor muscle tone hypotoniasmall head size microcephalyand mental retardation. A classic feature of the syndrome is the cat-like cry made by infants with this disorder. Description Dr. Jerome Lejeune first described cri du chat syndrome in The syndrome is named for the cat-like cry made by infants with this genetic disorder. Cri du chat means "cat's cry" in French.
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This unusual cry is caused by abnormal development of the larynx organ in the throat responsible for voice production. Cri du chat syndrome is also called 5p deletion syndrome because it is caused by a deletion, or removal, of genetic material from chromosome 5. The deletion that causes cri du chat syndrome occurs on the short or "p" arm of chromosome 5. This deleted genetic material is vital for normal development.
Cri Du Chat Syndrome
Absence of this material rci in the features associated with cri du chat syndrome. A high-pitched mewing cry during infancy is a classic feature of cri du chat. Infants with cri du chat also typically have low birth weight, slow growth, a small head microcephaly and poor muscle tone hypotonia.
Infants with cri du chat may have congenital heart defects. Individuals with cri du chat syndrome have language difficulties, delayed motor skill development, and mental retardation. Behavioral problems may also develop as the child matures.
Brainstorm
It has been estimated that cri du chat syndrome occurs in one of every 50, live births. Sgndrome accounts for 1 in every cases of mental retardation. According to the 5p minus Society, approximately children are born with cri du chat syndrome in the United States each year. It can occur in all races and in both sexes, although there is a slight female predominance.
The male:female ratio is Causes and symptoms Cri du chat is the result of a chromosome abnormality—a deleted piece of chromosomal material on chromosome 5. This means that it happens randomly and is not hereditary. The severity of mental retardation in cri du chat syndrome is correlated with the extent of deletion of delta-catenin, a protein with an important role in brain functioning.]
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