Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.

doi:10.1136/jmg.2009.069906

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Article

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.

Journal of medical genetics - 1 May 2010

Bruno Damien L, Anderlid Britt-Marie, Lindstrand Anna, van Ravenswaaij-Arts Conny, Ganesamoorthy Devika, Lundin Johanna, Martin Christa Lese, Douglas Jessica, Nowak Catherine, Adam Margaret P, Kooy R Frank, Van der Aa Nathalie, Reyniers Edwin, Vandeweyer Geert, Stolte-Dijkstra Irene, Dijkhuizen Trijnie, Yeung Alison, Delatycki Martin, Borgström Birgit, Thelin Lena, Cardoso Carlos, van Bon Bregje, Pfundt Rolph, de Vries Bert B A, Wallin Anders, Amor David J, James Paul A, Slater Howard R, Schoumans Jacqueline

Abstract excerpt

BACKGROUND: Chromosome 17p13.3 contains extensive repetitive sequences and is a recognised region of genomic instability. Haploinsufficiency of PAFAH1B1 (encoding LIS1) causes either isolated lissencephaly sequence or Miller-Dieker syndrome, depending on the size of the deletion. More recently, both microdeletions and microduplications mapping to the Miller-Dieker syndrome telomeric critical region have been...

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Identifiers

PMID: 20452996
DOI: 10.1136/jmg.2009.069906

Genes

YWHAE
CRK

Provenance

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Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.PMID 20452996Read ↗

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