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Tvístæða litnings nr. 11 frá föður hjá sjúk­lingi með Beckwith-Wiedemann heilkenni. Fyrsta greining á Íslandi : sjúkratilfelli

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Authors
Gestur I. Pálsson
Valdís Finnsdóttir
Jóhann Heiðar Jóhannsson
Sigurður Ingvarsson
Issue Date
2005-11-01

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Other Titles
Uniparental disomy of chromosome 11 in a patient with Beckwith-Wiedemann syndrome. First reported case in Iceland
Citation
Læknablaðið 2005, 91(11):837-40
Abstract
Beckwith-Wiedemann syndrome (BWS) is a generalized overgrowth condition as well as regional and organ overgrowth in newborn children. It includes an increased risk of certain embryonal tumours. The aetiology of BWS is complex as different genetic and epigenetic alterations at chromosome region 11p15.5 may occur. We report the first case of paternal uniparental disomy in Beckwith-Wiedemann syndrome in Iceland. The diagnosis of Beckwith-Wiedemann syndrome is important as the risk of malignant tumors makes it mandatory that the children are followed for several years with regular investigations to detect the tumors as early as possible.
Í Beckwith-Wiedemann heilkenni kemur fram meðfæddur aukinn líkamsvöxtur hjá ungbörnum, ofvöxtur í líffærum, misræmi í stærð líkamshelm­inga og aukin hætta á illkynja æxlisvexti. Erfðir heilkennisins geta verið flóknar en einkennast af stökkbreytingum, afbrigðilegri erfðagreypingu og litningagöllum á svæðinu 11p15.5. Lýst er fyrsta tilfelli sem greinst hefur hér á landi með erfðamarkarannsókn sem leiddi í ljós tvístæðu (disomy) litninga nr. 11 frá föður. Greining á Beckwith-Wiedemann heilkenni er mikilvæg í ljósi þess að fylgja þarf þessum börnum vandlega eftir fyrstu æviárin með reglubundnum rannsóknum vegna hættu á illkynja æxlum.
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Icelandic Journal Articles (Peer Reviewed)

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