Search results
Results From The WOW.Com Content Network
13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Depending upon the size and location of the deletion on chromosome 13, the physical and mental manifestations will vary. It has the potential to cause intellectual disability and congenital malformations that affect a ...
In a small percentage of cases, trisomy 13 is caused by a rearrangement of chromosomal material between chromosome 13 and another chromosome. As a result, a person has the two usual copies of chromosome 13, plus extra material from chromosome 13 attached to another chromosome. These cases are called translocation trisomy 13.
[1] [3] [5] The syndrome is diagnosed when genetic testing confirms a mutation in CDK13. [2] Treatment centres around the symptoms. Medication or, in severe cases, gastrostomy can be used for the gastrointestinal dysmotility. [2] [3] [6] Speech therapy as early as possible or assistive communication devices can aid language development.
A Robertsonian translocation results when the long arms of two acrocentric chromosomes fuse at the centromere and the two short arms are lost. If, for example, the long arms of chromosomes 13 and 14 fuse, no significant genetic material is lost—and the person is completely normal in spite of the translocation.
NHS. Claus Højbjerg Gravholt, a professor of genetic endocrinology, said it is impossible to state everyone with a Y chromosome is a male and everyone with an X chromosome is a female.
Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13.The extra genetic material disrupts normal development, causing multiple and complex organ defects.
Reciprocal translocation: Segments from two different chromosomes have been exchanged. Robertsonian translocation: An entire chromosome has attached to another at the centromere - in humans, these only occur with chromosomes 13, 14, 15, 21, and 22. Rings: A portion of a chromosome has broken off and formed a circle or ring. This happens with or ...
The chromosomal basis of Cri du chat syndrome consists of a deletion of the most terminal portion of the short arm of chromosome 5. 5p deletions, whether terminal or interstitial, occur at different breakpoints; the chromosomal basis generally consists of a deletion on the short arm of chromosome 5.