Cri du chat syndrome is a rare genetic disorder caused by a missing section on a particular chromosome known as Chromosome 5. Sometimes, material from another chromosome is missing as well. Around one in every 50,000 or so babies is diagnosed with this disorder. This estimate is coming down.
Does Cri du Chat have 46 chromosomes?
A female infant presented at birth with hypotonia, growth retardation, distinctive facies, multiple congenital anomalies, and a high-pitched mewing cry characteristic of cri du chat syndrome. Chromosome studies from both peripheral blood and fibroblasts showed a 46,XX,5p- karyotype.
Can Cri du Chat reproduce?
Previous investigators have noted the lack of information about the reproductive fitness of patients with this disorder. This report demonstrates that females with cri du chat syndrome are fertile, can gestate and likewise deliver affected offspring, which has significant management and counseling implications.
Is there a cure for Cri du Chat?
There is no cure for cri du chat syndrome. Treatment aims to stimulate the child and help them to reach their full potential and can include: physiotherapy to improve poor muscle tone.
How does Cri du chat affect everyday life?
Moderate to severe intellectual disability is present in most cases. Speech development is especially delayed in children with cri du chat syndrome. Affected children usually understand speech better than they can communicate. Some children may display hyperactivity or self-abusive behaviors.
What is the 5th chromosome responsible for?
Because chromosome 5 is responsible for many forms of growth and development (cell divisions) changes may cause cancers.
|No. of genes||839 (CCDS)|
|Centromere position||Submetacentric (48.8 Mbp)|
|Complete gene lists|
What happens if you are missing chromosome 13?
Chromosome 13, Partial Monosomy 13q is usually apparent at birth and may be characterized by low birth weight, malformations of the head and facial (craniofacial) area, abnormalities of the eyes, defects of the hands and/or feet, genital malformations in affected males, and/or additional physical abnormalities.
What is super male syndrome?
XYY syndrome is a rare chromosomal disorder that affects males. It is caused by the presence of an extra Y chromosome. Males normally have one X and one Y chromosome. However, individuals with this syndrome have one X and two Y chromosomes. Affected individuals are usually very tall.