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Conference Paper: The first reported case of the DRAGON gene deletion in human. A case with a de-novo interstitial deletion of chromosome 5q15-21.1

TitleThe first reported case of the DRAGON gene deletion in human. A case with a de-novo interstitial deletion of chromosome 5q15-21.1
Authors
Issue Date2009
Citation
The 59th Annual Meeting of the American Society of Human Genetics (ASHG 2009), Honolulu, HI., 20-24 October 2009. How to Cite?
AbstractChondrodysplasia punctata (CDP) is an etiologically heterogenous condition caused by single gene disorders, chromosome abnormalities, maternal diseases or exposures to teratogens. We report a male fetus with rhizomelic CDP associated with deletion at 5q15-5q21.1. This segment contains the DRAGON gene, a bone morphogenetic factor co-receptor, also known as RGMb (repulsive guidance molecule b). It is postulated that its haplo-insufficiency is associated with the phenotype in this fetus. The mother (30yo, G2P0SA1L0) was referred at 19.3 weeks for abnormal antenatal ultrasound findings of short limbs, short splayed digits, brachycephaly, small cistern magna, hypoplastic inferior cerebellar vermis, micrognathia, multiple intracardiac echogenic foci and 2-vessel umbilical cord. There was no history of maternal disease/ exposures. The pregnancy was terminated at 21 weeks. Autopsy confirmed the ultrasound findings and in addition showed brain hypomyelination with ...
Persistent Identifierhttp://hdl.handle.net/10722/197321

 

DC FieldValueLanguage
dc.contributor.authorBrenner, Gen_US
dc.contributor.authorChung, BHYen_US
dc.contributor.authorShannon, Pen_US
dc.contributor.authorToi, Aen_US
dc.contributor.authorShaffer, Len_US
dc.contributor.authorChitayat, Den_US
dc.date.accessioned2014-05-23T02:42:25Z-
dc.date.available2014-05-23T02:42:25Z-
dc.date.issued2009en_US
dc.identifier.citationThe 59th Annual Meeting of the American Society of Human Genetics (ASHG 2009), Honolulu, HI., 20-24 October 2009.en_US
dc.identifier.urihttp://hdl.handle.net/10722/197321-
dc.description.abstractChondrodysplasia punctata (CDP) is an etiologically heterogenous condition caused by single gene disorders, chromosome abnormalities, maternal diseases or exposures to teratogens. We report a male fetus with rhizomelic CDP associated with deletion at 5q15-5q21.1. This segment contains the DRAGON gene, a bone morphogenetic factor co-receptor, also known as RGMb (repulsive guidance molecule b). It is postulated that its haplo-insufficiency is associated with the phenotype in this fetus. The mother (30yo, G2P0SA1L0) was referred at 19.3 weeks for abnormal antenatal ultrasound findings of short limbs, short splayed digits, brachycephaly, small cistern magna, hypoplastic inferior cerebellar vermis, micrognathia, multiple intracardiac echogenic foci and 2-vessel umbilical cord. There was no history of maternal disease/ exposures. The pregnancy was terminated at 21 weeks. Autopsy confirmed the ultrasound findings and in addition showed brain hypomyelination with ...-
dc.languageengen_US
dc.relation.ispartofASHG Annual Meeting 2009en_US
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.titleThe first reported case of the DRAGON gene deletion in human. A case with a de-novo interstitial deletion of chromosome 5q15-21.1en_US
dc.typeConference_Paperen_US
dc.identifier.emailChung, BHY: bhychung@hku.hken_US
dc.identifier.authorityChung, BHY=rp00473en_US
dc.description.naturepostprint-
dc.identifier.hkuros167720en_US

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