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7q11.23 duplication syndrome (also called dup7 or 7dup or duplication of the Williams-Beuren syndrome critical region) is a rare genetic syndrome caused by micro-duplication of 1.5-1.8 mega base in section q11.23 of chromosome 7.
Interventions may include special education, psychiatric treatment, standard epilepsy treatment, audiology assessment, physical and occupational therapy for gross/fine motor skills, and regular monitoring of congenital anomalies or defects. Due to increased risk of obesity associated with the syndrome, psychiatric medications associated with ...
It highlights the importance of considering both immunological and psychological factors in their diagnosis and treatment, suggesting shared genetic underpinnings of these disorders and aiming to bridge the gap between immunology and psychiatry, ultimately paving the way for more comprehensive approaches to diagnosis and treatment strategies ...
A karyotype of an individual with trisomy 21, showing three copies of chromosome 21. An abnormal number of chromosomes is known as aneuploidy, and occurs when an individual is either missing a chromosome from a pair (resulting in monosomy) or has more than two chromosomes of a pair (trisomy, tetrasomy, etc.).
It consists of 22 autosomes plus one copy of the X chromosome and one copy of the Y chromosome. It contains approximately 3.1 billion base pairs (3.1 Gb or 3.1 x 10 9 bp). [ 6 ] This represents the size of a composite genome based on data from multiple individuals but it is a good indication of the typical amount of DNA in a haploid set of ...
Down syndrome or Down's syndrome, [12] also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features.
3p deletion syndrome is brought on by the loss of chromosome 3's small (p) arm's end. The majority of 3p deletion syndrome instances are not hereditary. One chromosome is deleted, usually randomly, either in the early stages of fetal development or during the production of reproductive cells, such as eggs or sperm.
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. [7]