Inherited Xq duplication due to a zygotic translocation t(X;X)(q23;q27).
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.
Morichon-Delvallez
N
N
Laboratoire de Cytogénétique, Centre Hospitalier Régional et Universitaire, Amiens.
Couturier
J
J
Bourdrel
V
V
D000328:Adult; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014178:Translocation, Genetic; D015053:Zygote