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A typical gamete (either egg or sperm) has one copy of each chromosome (23 total). When it is combined with a gamete from the other parent during conception, the child has 46 chromosomes. However, with nondisjunction, a gamete is produced with an extra copy of chromosome 21 (the gamete has 24 chromosomes).
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.
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.
The STS gene is located on the X chromosome at band Xp22.3. Thus, the syndrome is an X-linked condition, and it affects males and females differently. The 23rd pair of chromosomes is typically termed the "sex chromosomes". Females have two X chromosomes and males have one X and one Y chromosome.
22q13 deletion syndrome, known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end (long arm) of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations ( phenotype ) typical of a terminal deletion may be diagnosed as 22q13 ...
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 ...
[1] [2] Understanding the genes involved may help to target medical treatment to individuals with Down syndrome. It is estimated that chromosome 21 contains 200 to 250 genes. [3] Recent research has identified a region of the chromosome that contains the main genes responsible for the pathogenesis of Down syndrome, [4] located proximal to 21q22 ...
8p23.1 duplication syndrome is a rare genetic disorder caused by a duplication of a region from human chromosome 8. [1] This duplication syndrome has an estimated prevalence of 1 in 64,000 births [1] and is the reciprocal of the 8p23.1 deletion syndrome.