Morichon-Delvallez N, Couturier J, Bourdrel V
Laboratoire de Cytogénétique, Centre Hospitalier Régional et Universitaire, Amiens.
Ann Genet. 1988;31(2):117-9.
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.
在一名患有多种畸形的女童中发现了Xq重复。家系研究显示，其表型近乎正常的母亲携带相同的重复。祖母的核型显示存在嵌合体：46,X,del(X)(q23)/46,X,dup(X)(q27----q23)。这种嵌合体可能与受精卵第一次细胞分裂期间的X;X易位t(X;X)(q23;q27)有关。
