Searching for 22q11 2 Duplication Syndrome Support information? Find all needed info by using official links provided below.
https://rarediseases.info.nih.gov/diseases/10557/22q112-duplication-syndrome
53 rows · Apr 06, 2018 · Genetics Home Reference (GHR) contains information on 22q11.2 duplication syndrome. This website is maintained by the National Library of Medicine. Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about 22q11.2 duplication syndrome.
https://www.22qties.org/22q-duplication/
The 22q11.2 Duplication is about half as common as the 22q11.2 deletion (so found in about 1/4000 newborns). But because there are likely so many individuals who remain undiagnosed, it is hard for doctors to estimate the prevalence of this syndrome.
http://www.22q.org/about-22q/new-diagnosed/22q11-2-duplication-2/
The 22q11.2 Duplication is about half as common as the 22q11.2 deletion (so found in about 1/4000 newborns). But because there are likely so many individuals who remain undiagnosed, it is hard for doctors to estimate the prevalence of this syndrome. The duplication has the potential to affect many systems in the body and can cause a wide range of health problems.
https://www.rarechromo.org/media/information/Chromosome%2022/22q11.2%20microduplications%20FTNW.pdf
A 22q11.2 duplication is a genetic variation in which there is an extra copy of a small piece of chromosome 22. The duplication is found near the middle of the chromosome at a place called q11.2. Because the extra bit is very tiny indeed, you will sometimes see it called a microduplication.
https://rarediseases.info.nih.gov/organizations/184
Unique – Rare Chromosome Disorder Support Group . Unique – Rare Chromosome Disorder Support Group . G1, The Stables Station Road West Surrey RH8 9EE United Kingdom ... Synonyms: 22q11.2 duplication, 22q11.2 microduplication syndrome, Chromosome 22q11.2 duplication syndrome 22q13.3 deletion syndrome. Synonyms: Phelan-McDermid syndrome ...
https://www.chop.edu/conditions-diseases/22q112-deletion-and-duplication-syndromes
22q11.2 deletion is almost as common as Trisomy 21, also known as Down syndrome, which is a more widely recognized chromosomal disorder. Children with 22q11.2 deletion and duplication syndromes often have other health problems, including: Heart defects; Feeding difficulties; Gastrointestinal problems; Immune system problems; Wounds that don’t heal properly
http://www.c22c.org/22q11dup.htm
Microduplication 22q11.2 is a relatively newly recognized syndrome. While its counterpart, the 22q11.2 microdeletion syndrome, is relatively common (estimated in 1 in 4000 births) (Shaffer and Lupski, 2000), the 22q11.2 microduplication was first reported in 1999 (Edelmann, 1999). Since then, fewer than 100 individuals with this genetic finding have been reported in the medical literature.
https://22qfamilyfoundation.org/what-22q/22q-overview
22q11.2 Deletion syndrome or 22q (also referred to as Velocardiofacialsyndrome (VCFS), and/or DiGeorge syndrome) is a disorder caused by a small missing piece of the 22nd chromosome. This tiny missing portion of chromosome 22 can affect every system in the human body. 22q can be the cause of nearly 200 mild to serious health and developmental issues in children.
https://www.ncbi.nlm.nih.gov/books/NBK1523/?report=printable
Sep 23, 1999 · 22q11.2 deletion syndrome is a contiguous gene deletion syndrome inherited in an autosomal dominant manner. About 93% of probands have a de novo deletion of 22q11.2 and 7% have inherited the 22q11.2 deletion from a parent. Offspring of affected individuals have a 50% chance of inheriting the 22q11.2 deletion.Cited by: 1285
https://en.wikipedia.org/wiki/22q11.2_deletion_syndrome
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by the deletion of a small segment of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental delay, learning problems and cleft palate.Causes: Genetic (typically new mutation)
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