Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region

BACKGROUND: Standard cytogenetic analysis has revealed to date more than 30 reported cases presenting interstitial deletions involving region 2q31-q32, but with poorly defined breakpoints. After the postulation of 2q31.2q32.3 deletion as a clinically recognizable disorder, more patients were reporte...

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Bibliografiska uppgifter
Huvudupphovsmän: Ferreira, Susana Isabel, Matoso, Eunice, Venâncio, Margarida, Saraiva, Jorge, Melo, Joana B, Carreira, Isabel Marques
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2012
Ämnen:
Case Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3460744/
https://ncbi.nlm.nih.gov/pubmed/22550961
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-5-25
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