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What disease is caused by chromosomal duplication?

23 duplication syndrome results from an extra copy of a region on the long (q) arm of chromosome 7 in each cell. This region is called the Williams-Beuren syndrome critical region (WBSCR) because its deletion causes a different disorder called Williams syndrome, also known as Williams-Beuren syndrome.

What disease is caused by chromosomal duplication?

23 duplication syndrome results from an extra copy of a region on the long (q) arm of chromosome 7 in each cell. This region is called the Williams-Beuren syndrome critical region (WBSCR) because its deletion causes a different disorder called Williams syndrome, also known as Williams-Beuren syndrome.

Is Microduplication syndrome inherited?

Many affected individuals inherit the duplication from one parent who has the chromosomal change, although not necessarily the same associated features. In other affected individuals, the 1q21. 1 microduplication is not inherited.

What is micro duplication syndrome?

3q29 microduplication syndrome (also known as 3q29 duplication syndrome) is a condition that results from the copying (duplication ) of a small piece of chromosome 3 in each cell. The duplication occurs on the long (q) arm of the chromosome at a position designated q29.

How common is chromosome duplication?

Duplications are even less common, showing a prevalence of 0.7 per 10,000 births and representing ≍ 2% of all the chromosome abnormalities identified (Wellesley et al., 2012).

What does Microduplication mean?

Microduplications, or submicroscopic duplications, are chromosomal duplications that are too small to be detected by light microscopy using conventional cytogenetics methods. Specialized testing is needed to identify these duplications.

Should I test for microdeletions?

Should I get screened for microdeletions? That is a decision you should make with your doctor or healthcare provider. If you are looking for greater reassurance about the health of your baby, this test is available as early as 9 weeks into your pregnancy.

What is 9q34 duplication syndrome?

9q34 duplication syndrome. When a particular set of developmental features occurs in a recognisable and consistent pattern in enough people, as a result of a single cause, the condition is called a syndrome. The features of 9q34 duplication do occur in this way, so the disorder is known as 9q34 duplication syndrome.

What is chromosome 5q duplication?

Chromosome5q duplicationis a chromosome abnormalitythat occurs when there is an extra copyof genetic materialon the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genesare involved.

What are the signs and symptoms of 5p duplication?

Symptoms. In general, many affected infants and children with a 5p duplication have abnormalities that include low muscle tone ( hypotonia ); an unusually large head (macrocephaly), and additional abnormalities of the head and facial (craniofacial) area; long, slender fingers (arachnodactyly); developmental delay; and intellectual disability.

Can interstitial duplication of 5q35 be reversed by molecular karyotyping?

Microduplications of 5q35.2-q35.3 including NSD1 have been reported in only five patients so far and described clinically as a reversed Sos resulting from a hypothetical gene dosage effect of NSD1. Here, we report on nine patients from five families with interstitial duplication 5q35 including NSD1 detected by molecular karyotyping.