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7q11.23 duplication syndrome is characterized by delayed motor, speech, and social skills in early childhood; neurologic abnormalities (hypotonia, adventitious movements, and abnormal gait and station); speech sound disorders including motor speech disorders (childhood apraxia of speech and/or dysarthria) and phonologic disorders; behavior probl...
7q11.23 duplication syndrome is considered to be an autosomal dominant condition, which means one copy of chromosome 7 with the duplication in each cell is sufficient to cause the disorder. Most cases result from a duplication that occurs during the formation of reproductive cells (eggs and sperm).
People who have extra material on a chromosome are said to have a duplication but when the amount of material is so small that it can’t be seen under a microscope, it is called a microduplication. Specific 7q11.23 microduplications are often referred to as 7q11.23 duplication syndrome.
Chromosome 15 is an acrocentric chromosome with low-copy repeats (LCRs). LCRs are located on the proximal long arm of chromosome 15 (15q11.2q13), a feature that leads to cytogenetic abnormalities such as deletions and duplications. Non-allelic homologous recombinations (NAHRs) between specific breakpoints (numbered BP1 to BP5), during meiosis I ...
16 cze 2016 · Clinical characteristics. Maternal 15q duplication syndrome (maternal dup15q) is characterized by hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms. Rarely, maternal dup15q may also be associated with psychosis or sudden unexplained death.
Chromosomal microdeletions and microduplications have been associated with syndromic forms of intellectual disability (ID) and developmental delay (DD) since the 1980s.
In neurological exams performed in clinic in Simons Searchlight, the most common findings in people with a 16p11.2 duplication included low muscle tone and weakness, underactive or overactive reflexes (a test of nerve impulses), and motor tremor (slight shaking or trembling of the hands).
