Phelan-McDermid's syndrome or 22q13.3 deletion is a rare aberration of chromosome 22 due to the fact that part of the chromosome is not complete. The syndrome is named after Canadian researchers Mary Catherine (Katy) Phelan and Heather E. McDermid, the first to describe it.
The main symptoms are mental retardation and various physical abnormalities. This can occur in individuals in different forms.
In the type designation of the syndrome, the '22' for chromosome 22, the 'q' for the long part of the chromosome, '13 .31 'is for the band where the deviation is and' deficiency 'for the fact that it to part of the chromosome that is not present. This latter specification is required because variations of the deviation exist, with the DNA code not present here being double in that situation (22q13.3 duplication syndrome). Construction 22q13.3
In Phelan-McDermid's syndrome, there is a lack of genetic material in the telomeres. Research has shown that all patients lack the Shank 3 gene responsible for the synapses. Symptoms
Observed so far: Research
There are targeted hypotheses about a relationship between autism and schizophrenia. Both autism and schizophrenia are caused by problems in the development of the embryo in the first month of pregnancy. Approximately 20 to 40 days after fertilization, both disorders cause something wrong in the construction of the body parts and brains, which causes a chain reaction. The diseases have the same cause.
On the genetic plane, there are also relationships between autism and schizophrenia based on duplications and deficiencies within chromosomes. Thus, statistically, it has been found that Phelan-McDermid's syndrome significantly increases schizophrenia and significantly increases autism in the 22q13.3 duplication syndrome. Similar observations have been made for chromosome 1 on 1q21.1 (deletion (1q21.1 deletion syndrome): schizophrenia / duplication (1q21.1 duplication syndrome): autism) for chromosome 16 at 16p11.2 (deficiency: autism / duplication: schizophrenia) and chromosome 22 at 22q11.21 (deficiency (Velocardiofial Syndrome): schizophrenia / duplication: autism). Studies on relationships between autism and schizophrenia linked to deficiencies / duplications for chromosome 15 (15q13.3), chromosome 16 (16p13.1) and chromosome 17 (17p12) are not yet unambiguous.
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