Wednesday, December 30, 2009

What is the name of the genetic mutation that makes a baby cry like a cat and have deformed facial features?

';5-P Syndrome: 50-60 children each year are born with this rare disorder. It is a genetic disorder, also called Cat Cry Syndrome. It is caused by a missing part of Chromosome #5. Children born with 5-P Syndrome have poor muscle tone, a low birth weight, and a high-pitched cry at birth. Children with 5-P Syndrome have poor muscle tone. Other symptoms include feeding problems, walking delays, scoliosis, mental retardation and hyperactivity. Some children with 5-P Syndrome are born with life-threatening complications like organ defects, but most people with 5-P live a long and healthy life.';What is the name of the genetic mutation that makes a baby cry like a cat and have deformed facial features?
It is called Cri-du- chat syndrome. (cry of the cat).





It is the absence of a section of one of the chromosome 5 homologs.


This is called a partial monosomy.



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