X monosomy and 21 trisomy in a sibship
✍ Scribed by Antoine Broustet; Françoise Serville; Patrick Roger; Monique Gachet
- Publisher
- Springer
- Year
- 1975
- Tongue
- English
- Weight
- 225 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
✦ Synopsis
The case of a sibship of 4, 2 members of which present aneuploïdy (45,X and 47,XX,21+) is reported. The paternal grandfather and grandmother are first cousins and there is a large number of centromeric associations in the father.
📜 SIMILAR VOLUMES
We report a case of mosaicism for three cell lines: 45,X, 46,XX, and 47,XX,+ 12, diagnosed prenatally by amniocentesis done for advanced maternal age. Cord blood from the baby showed mosaicism for 45,X and 46,XX; cultures derived from multiple placental sites, villi, cord, membrane, and skin had var
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 s
In this report a severely mentally retarded adult female with 9p trisomy/18pter monosomy is described. In addition to a 9p trisomy phenotype this patient presented with multiple cutaneous leiomyomata. The question is raised whether the concurrence of the chromosomal anomaly and the multiple skin tum