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Clinical variabilit...
Clinical variability of the 22q11.2 duplication syndrome
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- Wentzel, Christian (författare)
- Uppsala universitet,Medicinsk genetik
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Fernström, Maria (författare)
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Öhrner, Ylva (författare)
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- Annerén, Göran (författare)
- Uppsala universitet,Medicinsk genetik
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- Thuresson, Ann-Charlotte (författare)
- Uppsala universitet,Medicinsk genetik,Annerén G
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(creator_code:org_t)
- Elsevier BV, 2008
- 2008
- Engelska.
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Ingår i: European Journal of Medical Genetics. - : Elsevier BV. - 1769-7212 .- 1878-0849. ; 51:6, s. 501-510
- Relaterad länk:
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https://uu.diva-port... (primary) (Raw object)
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http://uu.diva-porta...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from normal to learning disability and congenital defects. Both patients with a de novo 22q11.2 duplication and patients in whom the duplication has been inherited from a phenotypically normal parent have been reported. In this study we present two familial cases with a 3Mb 22q11.2 duplication detected by array-CGH. We also review the findings in 36 reported cases with the aim of delineating the phenotype of the 22q11.2 duplication syndrome. In a majority of the reported cases where parents have been tested, the duplication seems to have been inherited from a normal parent with minor abnormalities. With this in mind we recommend that family members of patients with a 22q11.2 duplication to be tested for this genetic defect.
Nyckelord
- 22q11.2 Duplication
- Syndrome
- Mental retardation
- Children
- Array-CGH
- MLPA
- MEDICINE
- MEDICIN
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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