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Article

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

Clinical dysmorphology - 1 Oct 2006

Su Pen-Hua, Chen Jia-Yuh, Chen Suh-Jen, Yang Ming-Shiang, Liu Yuh-Ling

Abstract excerpt

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...

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PMID: 16957478
DOI: 10.1097/01.mcd.0000228422.66789.a2

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