Familial paracentric inversions inv(2)(q31q35) and inv(8)(q22.3q24.13) ascertained through reproductive abnormalities |
| |
| Authors: | C C Lin P Bowen J J Hoo |
| |
| Institution: | (1) Department of Pathology and Laboratory Medicine WC Mackenzie Health Sciences Centre, University of Alberta, T6G 2B7 Edmonton, Canada;(2) Department of Division of Medical Genetics, Department of Pediatrics, WC Mackenzie Health Sciences Centre, University of Alberta, T6G 2B7 Edmonton, Canada;(3) Department of Pediatrics, the University of Illinois, College of Medicine at Chicago, Chicago, Illinois, USA |
| |
| Abstract: | Summary Two cases of familial paracentric inversion, one in the long arm of chromosome 2 and the other in the long arm of chromosome 8, are described. The first was ascertained in a woman who was studied because of recurrent abortions. The second was ascertained in the father of a girl with the trichorhinophalangeal syndrome and an interstitial deletion in 8q. The latter is the first case in which unequal crossing over in an inversion loop can be inferred in a male carrier of a paracentric inversion. The reasons for the relatively low frequency of paracentric inversions observed and factors which affect the pregnancy outcome are discussed. |
| |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ |
|
