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dc.contributor.authorNishigaki, Satsuki
dc.contributor.authorHamazaki, Takashi
dc.contributor.authorSaito, Mika
dc.contributor.authorYamamoto, Toshiyuki
dc.contributor.authorSeto, Toshiyuki
dc.contributor.authorShintaku, Haruo
dc.date.accessioned2015-09-01T17:50:17Z
dc.date.available2015-09-01T17:50:17Z
dc.date.issued2015-07-26
dc.identifier.citationMolecular Cytogenetics. 2015 Jul 26;8(1):54
dc.identifier.urihttp://dx.doi.org/10.1186/s13039-015-0162-3
dc.identifier.urihttp://hdl.handle.net/10724/31888
dc.description.abstractAbstract Ring chromosome 6 is a rare chromosome abnormality that arises typically de novo. The phenotypes can be highly variable, ranging from almost normal to severe malformations and neurological defects. We report a case of a 3-year-old girl with mosaic ring chromosome 6 who presented with being small for gestational age and intellectual disability, and whose brain MRI later revealed periventricular heterotopia and white matter abnormalities. Mosaicism was identified in peripheral blood cells examined by standard G-bands, mos 46,XX,r(6)(p25q27)[67]/45,XX,-6[25]/46,XX,dic r(6:6)(p25q27:p25q27)[6]/47,XX,r(6)(p25q27) × 2[2]. Using array-comparative genomic hybridization, we identified terminal deletion of 6q27 (1.5 Mb) and no deletion on 6p. To our knowledge, this is the first report of periventricular heterotopia and white matter abnormalities manifested in a patient with ring chromosome 6. These central nervous system malformations are further discussed in relation to molecular genetics.
dc.titlePeriventricular heterotopia and white matter abnormalities in a girl with mosaic ring chromosome 6
dc.typeJournal Article
dc.date.updated2015-07-29T18:55:58Z
dc.language.rfc3066en
dc.rights.holderNishigaki et al.


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