具有异常核型的18三体综合征：可能为双等臂染色体。
Trisomy 18 syndrome with an unusual karyotype: possible double isochromosome.
作者信息
Larson L M, Wasdahl W A, Saumur J H, Coleman M L, Jalal S M
出版信息
J Med Genet. 1978 Feb;15(1):73-6. doi: 10.1136/jmg.15.1.73.
Abstract
Chromosome analysis of an infant with characteristic features of trisomy 18 is presented. The chromosome complement contained a modal count of 47 but there was only one No. 18. In addition, there were two metacentric chromosomes of different sizes. The two metacentric chromosomes were identified by G- and C-banding to be possible isochromosomes of the long and short arms of a No. 18 chromosome.
摘要
本文报道了一名具有18三体特征性表现的婴儿的染色体分析结果。染色体核型计数显示为47条，但只有一条18号染色体。此外，还有两条大小不同的中着丝粒染色体。通过G显带和C显带鉴定，这两条中着丝粒染色体可能是18号染色体长短臂的等臂染色体。
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