Goodship J, Cross I, Scambler P, Burn J
Department of Human Genetics, University of Newcastle upon Tyne, UK.
J Med Genet. 1995 Sep;32(9):746-8. doi: 10.1136/jmg.32.9.746.
We report monozygotic twins concordant for 22q11.2 deletion but discordant for clinical phenotype. Both boys show the typical dysmorphic features with short palpebral fissures, square nasal tip, small mouth, and both have nasal speech, but only one twin had a heart defect. They show that the phenotypic variability seen in this microdeletion syndrome cannot be explained on the basis of genotypic differences alone.
我们报告了一对单卵双胞胎，他们均存在22q11.2缺失，但临床表型不一致。两个男孩都有典型的畸形特征，如睑裂短小、鼻尖呈方形、嘴巴小，且都有鼻音，但只有一个双胞胎患有心脏缺陷。他们表明，这种微缺失综合征中所见的表型变异性不能仅基于基因型差异来解释。
