Presentation on theme: "Cri Du Chat Syndrome Lindsey Kim. Cri Du Chat is the loss or deletion of a significant portion of the genetic material from the short arm of one of the."— Presentation transcript:
Cri Du Chat Syndrome Lindsey Kim
Cri Du Chat is the loss or deletion of a significant portion of the genetic material from the short arm of one of the pair of number five chromosomes.
CDC is a relatively rare genetic condition where it is estimated that 1:25,000 to 1:50,000 births are being diagnosed with CDC.
History In 1963, Le Jeune et al described a syndrome consisting of multiple congenital anomalies, mental retardation, microcephaly, abnormal face, and a mewing cry in infants with a deletion of a B group chromosome (Bp-), later identified as 5p-.1 (basically CDC.)
Most cases of cri du chat syndrome are not inherited or passed down among families. Just a random deletion occurs.
How it is diagnosed… Doctors most often identify cri-du- chat by the infant's cat-like cry. Other signs are microcephaly, poor muscle tone, and mental retardation. It is also possible to test for cri-du- chat (and other chromosomal abnormalitites) while the baby is still in its mother's womb. They can either test a tiny sample of tissue from outside the sac where the baby develops (chorionic villus sampling (CVS)), or they can test a sample of the amniotic fluid (amniocentesis).
"Cri du Chat" is French for "cat's cry" The most distinctive characteristic about CDC is the distinctive high- pitched, monotone, cat-like cry. u/criduchat/Images/babycr yb.wav
Treatments Although there is no real treatment for cri- du-chat syndrome, children with the disorder can go through therapy to improve their language skills, motor skills, and to help them develop as normally as possible.
Works Cited abstract=/monographs/conditions/condition-criduchat.asp