Chromosome 22 Duplication Syndrome
Chromosome 22 duplication syndrome. The features of this condition vary widely even among members of the same family. 22q112 deletion is almost as common as Trisomy 21 also known as Down syndrome which is a more widely recognized chromosomal disorder. A number sign is used with this entry because of evidence that the phenotype is caused by microduplications within a region of chromosome Xp1122 chrX530-543 Mb that.
C R O G Chromosome Xp1123-p1122 duplication syndrome. 53 rows 22q112 duplication syndrome is a condition caused by an extra copy of a small piece of chromosome 22 which contains about 30 to 40 genes. C R O G Chromosome Xq28 duplication syndrome.
The features that this conditio. The features of this condition vary widely even among members of the same family intrafamilial variability. Resulting from the absence of a DNA sequence on the long arm of chromosome 22 the syndrome has many possible signs and symptoms that may affect almost any part of the body including the heart palate the immune and endocrine systems and the kidneys.
Clinical features Help List of clinical features of the conditionphenotype displayed from sources such as the Human Phenotype Ontology HPO and OMIM. Children with 22q112 deletion and duplication syndromes often have other health problems including. Cat-eye syndrome is a rare disorder most often caused by a chromosomal change called an inverted duplicated 22.
The q112 refers to the specific location of the duplication on chromosome 22 like the house number on a street. For more information about the disease please go to the disease information page. The 22q112 Duplication is about half as common as the 22q112 deletion so found in about 14000 newborns.
A small extra chromosome is made up of genetic material from chromosome 22 that has been abnormally duplicated copied. Partial duplication of the short arm of chromosome X Chromosome Xp1123-p1122 duplication syndrome Follow this link to review classifications for Chromosome Xp1123-p1122 duplication syndrome in Orphanet. 24 rows A collection of disease information resources and questions answered by our.
The duplication is found near the middle of the chromosome at a place called q112. DefinitionBackground Information Chromosome 22q DuplicationSyndromeis a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm q of chromosome 22 The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved.
The features of this condition vary widely even among members of the same family.
The features of this condition vary widely even among members of the same family. A number sign is used with this entry because of evidence that the phenotype is caused by microduplications within a region of chromosome Xp1122 chrX530-543 Mb that. A small extra chromosome is made up of genetic material from chromosome 22 that has been abnormally duplicated copied. Chromosome duplication of the region that is deleted in patients with DGSVCFS has been reported establishing a new genomic duplication syndrome complementary to the 22q112 deletion syndrome. 53 rows 22q112 duplication syndrome is a condition caused by an extra copy of a small piece of chromosome 22 which contains about 30 to 40 genes. Some patients may have seizures hearing loss scoliosis or feeding and swallowing problems. C R O G Chromosome Xq28 duplication syndrome. But because there are likely so many individuals who remain undiagnosed it is hard for doctors to estimate the prevalence of this syndrome. Because the extra bit is very tiny indeed you will sometimes see it called a microduplication.
The features of this condition vary widely even among members of the same family intrafamilial variability. C R O G Chromosome Xp1123-p1122 duplication syndrome. Clinical features Help List of clinical features of the conditionphenotype displayed from sources such as the Human Phenotype Ontology HPO and OMIM. The features of this condition vary widely even among members of the same family. Partial duplication of the short arm of chromosome X Chromosome Xp1123-p1122 duplication syndrome Follow this link to review classifications for Chromosome Xp1123-p1122 duplication syndrome in Orphanet. Resulting from the absence of a DNA sequence on the long arm of chromosome 22 the syndrome has many possible signs and symptoms that may affect almost any part of the body including the heart palate the immune and endocrine systems and the kidneys. 24 rows A collection of disease information resources and questions answered by our.
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