Kozma C, Subasinghe C, Meck J
Child Development Center/Department of Pediatrics, Georgetown University Medical Center, Washington, DC 20007-3935, USA.
Prenat Diagn. 1996 Apr;16(4):366-70. doi: 10.1002/(SICI)1097-0223(199604)16:4<366::AID-PD863>3.0.CO;2-Z.
We report the first case of an apparent de novo pericentric inversion of chromosome 2 at the breakpoints p13q11.2 that was detected prenatally. Follow-up performed over 4 years showed phenotypic abnormalities including minor craniofacial dysmorphism, hypotonia, hearing loss, gustatory flushing syndrome, and severe developmental delays. The literature on chromosome 2 inversion is reviewed.
我们报告了首例产前检测到的2号染色体在p13q11.2断点处明显的新发臂间倒位病例。4年的随访显示存在表型异常，包括轻微的颅面部畸形、肌张力减退、听力丧失、味觉性潮红综合征和严重的发育迟缓。本文对2号染色体倒位的相关文献进行了综述。
