Department of Medical Genetics, University of Athens Medical School, Choremio Research Laboratory, Aghia Sophia Childrens Hospital, Thivon and Levadias, Goudi, Athens, Greece.
Eur J Paediatr Neurol. 2013 May;17(3):316-20. doi: 10.1016/j.ejpn.2012.12.004. Epub 2013 Jan 24.
A 28-month-old girl with dysmorphic craniofacial features, microcephaly, hypotonia, psychomotor retardation, failure to thrive and gastrointestinal problems was referred for clinical evaluation. Array-CGH analysis revealed one of the smallest de novo microdeletions on chromosome 16q21q22.1, 2.03 Mb in size. Advanced molecular analysis contributes to more precise genotype-phenotype correlation and accurate definition of the breakpoints in the deleted/duplicated regions.
一个 28 个月大的女孩，具有畸形的颅面特征、小头畸形、张力减退、精神运动发育迟缓、生长不良和胃肠道问题，被转来进行临床评估。阵列-CGH 分析显示，她在 16q21q22.1 染色体上存在一个最小的从头微缺失，大小为 2.03Mb。高级分子分析有助于更精确的基因型-表型相关性和对缺失/重复区域的断点进行准确定义。
