De novo inverted tandem duplication of the short arm of chromosome 12 in a patient with microblepharon.
De novo inverted tandem duplication of the short arm of chromosome 12 in a patient with microblepharon.
复制标题
小眼睑患者 12 号染色体短臂的从头反向串联重复。
DOI：
10.1002/ajmg.10025
复制
发表时间：
2001
期刊：
影响因子：
--
通讯作者：
A. Pandya
中科院分区：
文献类型：
--
作者：
M. Tekin;C. Jackson;A. Pandya
We present a patient with a de novo inverted duplication of nearly the entire short arm of chromosome 12 [inv dup(12)(p13.3p12)], which was characterized using GTG-banding and spectral karyotyping. The patient was noted to have microblepharon, which has not been previously described in children with a similar chromosomal rearrangement. This patient represents one of the few examples of complete and pure trisomy 12p due to inverted duplication of the short arm of chromosome 12 and expands the clinical spectrum.
