✦ LIBER ✦
The occurrence of a ring 18, an accessory bisatellited fragment, and trisomy 21 within one sibship
✍ Scribed by Elizabeth Grace; John Sills
- Publisher
- Springer
- Year
- 1978
- Tongue
- English
- Weight
- 343 KB
- Volume
- 43
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
A family is presented in which there were three different chromosome abnormalities in the children although the parents were cytogenetically normal. The proband had the karyotype 46,XX, r(18) (p11q23), a phenotypically normal brother was 47,XY,+mar, and another brother was a typical case of Down's syndrome, karyotype 47,XY,+21. There is nothing in the parents' history that provides grounds for a hypothesis to explain the coincidence of the abnormalities.