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

被引：4

作者：

Su, Pen-Hua

Chen, Jia-Yuh

Chen, Suh-Jen

Yang, Ming-Shiang

Liu, Yuh-Ling

机构：

[1] Chung Shan Med Univ Hosp, Div Genet, Taichung 402, Taiwan

[2] Chung Shan Med Univ Hosp, Div Neonatol, Taichung 402, Taiwan

[3] Chung Shan Med Univ Hosp, Dept Diagnost Radiol, Taichung 402, Taiwan

[4] Chung Shan Med Univ, Inst Med, Taipei, Taiwan

[5] Natl Taiwan Univ, Inst Mol Med, Taipei 10764, Taiwan

来源：

CLINICAL DYSMORPHOLOGY | 2006年 / 15卷 / 04期

关键词：

basilar artery dolichoectasia; imperforate anus; monosomy; 18p; paternal inheritance; trisomy; 20q;

D O I：

10.1097/01.mcd.0000228422.66789.a2

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

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 118pduplication 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.

引用

页码：225 / 228

页数：4

共 37 条

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