What is chromosome 7q11 23?
7q11. 23 duplication syndrome is a chromosome abnormality characterized by a variety of neurological and behavioral differences. It is caused by a small amount of additional (duplicated) genetic material from chromosome 7.
What is 22q duplication syndrome?
Overview. 22q11. 2 duplication syndrome is a condition caused by an extra copy of a small piece of chromosome 22 which contains about 30 to 40 genes. The features of this condition vary widely, even among members of the same family (intrafamilial variability).
What causes duplication in chromosomes?
Duplications typically arise from an event termed unequal crossing-over (recombination) that occurs between misaligned homologous chromosomes during meiosis (germ cell formation). The chance of this event happening is a function of the degree of sharing of repetitive elements between two chromosomes.
How is 7q11 23 duplication diagnosed?
Diagnosis/testing. The diagnosis of 7q11. 23 duplication syndrome is established by detection of a recurrent 1.5- to 1.8-Mb heterozygous duplication of the Williams-Beuren syndrome critical region.
What is the life expectancy of Williams syndrome?
What Is the Life-Expectancy of Williams Syndrome? Is There a Cure? The average loss of lifespan or life expectancy is estimated to be about 10-20 years, but there is a lack of data to confirm this. Moreover, each person is different so their lifespan may be different from the current estimates.
Is 22q duplication a disability?
The features of this condition vary widely, even among members of the same family. Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the duplication have no apparent physical or intellectual disabilities.
What happens if you have a duplicated chromosome?
In chromosomal duplications, extra copies of a chromosomal region are formed, resulting in different copy numbers of genes within that area of the chromosome.
What disease does Duplication cause?
MECP2 duplication syndrome is a severe neurological and developmental disorder. Signs and symptoms include low muscle tone ( hypotonia ) in infancy, developmental delay , severe intellectual disability , and progressive spasticity . Other signs and symptoms may include recurrent respiratory infections and seizures .