Low level of mosaicism in atypical Prader Willi syndrome: detection using fluorescent in situ hybridization.

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dc.contributor.authorChaddha, Vandanaen_US
dc.contributor.authorAgarwal, Savitaen_US
dc.contributor.authorPhadke, S Ren_US
dc.contributor.authorHalder, Ashutoshen_US
dc.date.accessioned2003-02-11en_US
dc.date.accessioned2009-05-27T05:46:40Z
dc.date.available2003-02-11en_US
dc.date.available2009-05-27T05:46:40Z
dc.date.issued2003-02-11en_US
dc.description.abstractPrader Willi syndrome (PWS) most commonly is due to paternal micro-deletion of 15q11-q13. Although PWS is not a rare condition, mosaic micro-deletion cases are reported rarely. FISH using PWS micro-deletion probe is the most useful method to detect deletion including mosaicism. In this report we describe a female child with clinical features of atypical PWS and FISH analysis showing mosaicism for deletion in the PWS critical region. This is first mosaic deletion case of PWS from Indian subcontinent.en_US
dc.description.affiliationDepartment of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow 226 014, India.en_US
dc.identifier.citationChaddha V, Agarwal S, Phadke SR, Halder A. Low level of mosaicism in atypical Prader Willi syndrome: detection using fluorescent in situ hybridization. Indian Pediatrics. 2003 Feb; 40(2): 166-8en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/13076
dc.language.isoengen_US
dc.source.urihttps://indianpediatrics.neten_US
dc.subject.meshChilden_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshIn Situ Hybridization, Fluorescenceen_US
dc.subject.meshMosaicism --diagnosisen_US
dc.subject.meshPrader-Willi Syndrome --geneticsen_US
dc.titleLow level of mosaicism in atypical Prader Willi syndrome: detection using fluorescent in situ hybridization.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
dc.typeResearch Support, Non-U.S. Gov'ten_US
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