Basilar artery dolichoectasia in a boy with a combination of partial monosomy 18p and partial trisomy 20q.
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.
Su
Pen-Hua
PH
Institute of Medicine, Chung Shan Medical University Division of Genetics Division of Neonatology Department of Diagnostic Radiology, Chung Shan Medical University Hospital Institute of Molecular Medicine, National Taiwan University, Taipei, Taiwan.
Chen
Jia-Yuh
JY
Chen
Suh-Jen
SJ
Yang
Ming-Shiang
MS
Liu
Yuh-Ling
YL
D002648:Child; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D014178:Translocation, Genetic; D014715:Vertebrobasilar Insufficiency / Q000235:genetics*