Inherited Xq duplication due to a zygotic translocation t(X;X)(q23;q27) |
| |
| Authors: | N Morichon-Delvallez J Couturier V Bourdrel |
| |
| Affiliation: | Laboratoire de Cytogénétique, Centre Hospitalier Régional et Universitaire, Amiens. |
| |
| Abstract: | An Xq-duplication was found in a female child with multiple malformations. The family study revealed that her mother, who has a nearly normal phenotype, carries the same duplication. The karyotype of the grandmother shows the existence of a mosaicism: 46,X,del(X) (q23)/46,X,dup(X)(q27----q23). This mosaicism can be related to a translocation t(X;X)(q23;q27) during the first cell division of the zygote. |
| |
| Keywords: | |
|
|
