Prenatal diagnosis of de novo partial trisomy 18p and partial monosomy 18q recurrent in a family with fatal aortic coarctation |
| |
Authors: | Hua Hu Jia Hao Hong Yao Qing Chang Rui Li Xiaohang Zhang Zhiqing Liang |
| |
Affiliation: | 1. Center for Prenatal Diagnosis, The Department of Obstetrics and Gynecology, Southwest Hospital, Third Military Medical University, ChongQing,400038, People''s Republic of China;2. Department of Ultraphonics, Southwest Hospital, Third Military Medical University, ChongQing, 400038, People''s Republic of China;3. Department of Cardiac Surgery, Xinqiao Hospital, Third Military Medical University, ChongQing, 400038, People''s Republic of China |
| |
Abstract: | Aortic coarctation is a life-threatening defect when it occurs with cardiorespiratory failure. Its genetic cause remains unknown. A woman was pregnant twice, both with male fetuses that had partial trisomy 18p, partial monosomy 18q, and aortic coarctation. The syndrome may relate to the aortic coarctation and pulmonary hypoplasia and is life-threatening. ArrayCGH analysis suggested a de novo 17.7 Mb deletion of chromosome 18q21.33 → qter (58,413,193 bp to 76,116,029 bp) and a de novo 12.4 Mb duplication of chromosome 18pter → p11.21 (1543 bp to 12,438,430 bp) at the telomeric end of chromosome 18. To the best of our knowledge, the present chromosomal breakpoint with rearrangement has not been previously described. This chromosome aberration may be responsible for this syndrome. |
| |
Keywords: | FISH, Fluorescence in-situ hybridization CGH, Comparative genomic hybridization GTG, Giemsa trypsin Giemsa FGR, fetal growth restriction |
本文献已被 ScienceDirect 等数据库收录! |
|