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Cri du Chat
Chromosome 5P Deletion Syndrome
Aravind Nair
Genetic Cause of Cri Du Chat
 Cri Du Chat is a genetic disorder caused by a deletion on the short arm of
Chromosome 5
 V...
Inheritance
 There are two types of genetic disorders: hereditary and non-hereditary
 Hereditary disorders are those tha...
Symptoms
 Small at birth
 Larynx does not develop correctly – causes the “cat-like cry”
 Small head
 Round Face
 Smal...
Risk Factors
 Very Rare disorder: Affects estimated 1 in 20,000 to 50,000 births
 Found in all ethnic backgrounds
 Most...
Treatments/Testing
 Symptoms may be individually treated, but there is no cure for the disorder
 If there are no major o...
Sources
 http://learn.genetics.utah.edu/content/disorders/chromosomal/cdc/
 http://www.genome.gov/19517558
 http://www....
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Cri du chat

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Cri du chat

  1. 1. Cri du Chat Chromosome 5P Deletion Syndrome Aravind Nair
  2. 2. Genetic Cause of Cri Du Chat  Cri Du Chat is a genetic disorder caused by a deletion on the short arm of Chromosome 5  Various genes are deleted and each contributes towards the disorder  TERT (Telomerase Reverse Transcriptase) – important during cell division because it helps keep the tips of chromosomes (telomeres) intact
  3. 3. Inheritance  There are two types of genetic disorders: hereditary and non-hereditary  Hereditary disorders are those that are passed from parents to their offspring  Non-hereditary disorders CANNOT be passed from parents to offspring and are RANDOM occurrences  Cri Du Chat is a NON-HEREDITARY disorder caused by a random deletion in a section of Chromosome 5 and has nothing to do with the genetic makeup of the parents  However, it is important to note that in about 80% of the cases of Cri du Chat, the deleted Chromosome 5 is paternal
  4. 4. Symptoms  Small at birth  Larynx does not develop correctly – causes the “cat-like cry”  Small head  Round Face  Small Chin  Wide Eyes  Folds over skin/eyes  Small bridge of nose  Various internal problems  Heart defects  Muscular/skeletal problems  Hearing/Sight problems  Walking/Talking issues  Behavioral problems (aggression, hyperactivity)  Mental Retardation
  5. 5. Risk Factors  Very Rare disorder: Affects estimated 1 in 20,000 to 50,000 births  Found in all ethnic backgrounds  Most common in females  Most cases seem to occur in development of egg/sperm  Most cases result when one parent carries a translocation of chromosome 5  Translocation: Rearrangement of parts between the chromosomes that are not members of the same pair  Can be balanced: Fully functional which causes no physical differences
  6. 6. Treatments/Testing  Symptoms may be individually treated, but there is no cure for the disorder  If there are no major organ defects and critical medical conditions, life expectancy is normal  Speech/Language Therapy  Doctors usually diagnose Cri du Chat by the “cat cry”  New tests for diagnosing Cri du Chat in the womb  Sample of tissue from outside the sac where the baby develops (chorionic villus sampling [CVS])  Sample of amniotic fluid that surrounds the baby (amniocentesis)
  7. 7. Sources  http://learn.genetics.utah.edu/content/disorders/chromosomal/cdc/  http://www.genome.gov/19517558  http://www.healthline.com/health/cri-du-chat-syndrome#Causes2

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