Familial paracentric inversions inv(2)(q31q35) and inv(8)(q22.3q24.13) ascertained through reproductive abnormalities
✍ Scribed by C. C. Lin; P. Bowen; J. J. Hoo
- Publisher
- Springer
- Year
- 1987
- Tongue
- English
- Weight
- 449 KB
- Volume
- 75
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
✦ Synopsis
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.