Basilar artery dolichoectasia in a boy with a combination of partial monosomy 18p and partial trisomy 20q.

中山醫學大學機構典藏 CSMUIR > 醫學院 > 醫學系 > 期刊論文 > Item 310902500/10927

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题名:	Basilar artery dolichoectasia in a boy with a combination of partial monosomy 18p and partial trisomy 20q.
作者:	Su, PH Chen, JY Chen, SJ Yang, MS Liu, YL
贡献者:	中山醫學大學
日期:	2006
上传时间:	2015-06-30T05:18:43Z (UTC)
ISSN:	0962-8827
摘要:	We describe an 11-year-old boy with facial dysmorphism consisting of a round and flat face, hypertelorism, short nose, and down turned corners of the mouth. In addition, he had severe mental retardation, short stature, imperforate anus, and basilar artery dolichoectasia. Cytogenetic evaluation revealed an unbalanced paternally inherited translocation t(18;20)(p11.2q13.3), resulting in partial monosomy 18p and partial trisomy 20q. The combination of deletion 18pduplication 20q has not been previously described and we suggest that the unusual finding of basilar artery dolichoectasia may be a feature of one of the imbalances.
URI:	https://ir.csmu.edu.tw:8080/ir/handle/310902500/10927 http://dx.doi.org/10.1097/01.mcd.0000228422.66789.a2
關聯:	Clin Dysmorphol. 2006 Oct;15(4):225-8.
显示于类别:	[醫學系] 期刊論文

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