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Emanuel syndrome

Field	Value
name	Emanuel syndrome
synonyms	derivative 22 syndrome, der(22) syndrome
image	[[File:Human male karyotpe high resolution - Chromosome 11 cropped.png]] [[File:Human male karyotpe high resolution - Chromosome 22 cropped.png]]
alt		caption = Chromosome 11 (left) and 22 (right) are both involved in causing the syndrome, due to extra genetic material.

Emanuel syndrome, also known as derivative 22 syndrome, or der(22) syndrome, is a rare disorder associated with multiple congenital anomalies, including profound intellectual disability, preauricular skin tags or pits, and conotruncal heart defects. It can occur in offspring of carriers of the constitutional chromosomal translocation t(11;22)(q23;q11), owing to a 3:1 meiotic malsegregation event resulting in partial trisomy of chromosomes 11 and 22. An unbalanced translocation between chromosomes 11 and 22 is described as Emanuel syndrome. It was first described in 1980 by American medical researchers Beverly S. Emanuel and Elaine H. Zackai, and a consortium of European scientists the same year.

Sign and symptoms

Infants with Emanuel syndrome have weak muscle tone (hypotonia) and fail to gain weight and grow at the expected rate (failure to thrive). and absent or unusually small (hypoplastic) kidneys; these problems can be life-threatening in infancy or childhood.

Causes

Emanuel syndrome is an inherited chromosome abnormality. It is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. In addition to the usual 46 chromosomes, people with Emanuel syndrome have an extra (supernumerary) chromosome consisting of a piece of chromosome 11 attached to a piece of chromosome 22. The extra chromosome is known as a derivative 22, or der(22), chromosome.

Genetics

People with Emanuel syndrome typically inherit the der(22) chromosome from an unaffected parent. The parent carries a chromosomal rearrangement between chromosomes 11 and 22 called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. As this translocation is passed to the next generation, it can become unbalanced. Individuals with Emanuel syndrome inherit an unbalanced translocation between chromosomes 11 and 22 in the form of a der(22) chromosome. (This der(22) chromosome is classified as one of the small supernumerary marker chromosomes.) These individuals have two normal copies of chromosome 11, two normal copies of chromosome 22 and extra genetic material from the der(22) chromosome. As a result of the extra chromosome, people with Emanuel syndrome have three copies of some genes in each cell instead of the usual two copies. The excess genetic material disrupts the normal course of development, leading to intellectual disability and birth defects. Researchers are working to determine which genes are included on the der(22) chromosome and what role these genes play in development.

Diagnosis

Emanuel syndrome can be diagnosed with a karyotype, fluorescence in situ hybridization or a chromosomal microarray analysis.

Treatment

Emanuel syndrome has no known cure, but individual symptoms may be treated. Assessments of individual systems, such as the cardiovascular, gastrointestinal, orthopedic, and neurological, may be necessary to determine the extent of impairment and options for treatment.

References

Reference, Genetics Home. "Emanuel syndrome".
"Emanuel syndrome {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
"What is Emanuel Syndrome?".
(1993–2020). "GeneReviews". University of Washington.
(2016). "Chromosome 22". U.S. National Library of Medicine.
(2015). "Small supernumerary marker chromosomes and their correlation with specific syndromes". Advanced Biomedical Research.
(1993). "GeneReviews". University of Washington, Seattle.

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

chromosomal-abnormalities autosomal-trisomies genetic-syndromes syndromes-affecting-the-heart syndromes-with-intellectual-disability syndromes-with-microcephaly

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