An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient.
Auber
B
B
Burfeind
P
P
Thiels
C
C
Alsat
E A
EA
Shoukier
M
M
Liehr
T
T
Nelle
H
H
Bartels
I
I
Salinas-Riester
G
G
Laccone
F
F
D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D006801:Humans; D010641:Phenotype; D015518:Rett Syndrome / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*