An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient.
B
B
Auber
P
P
Burfeind
C
C
Thiels
E A
EA
Alsat
M
M
Shoukier
T
T
Liehr
H
H
Nelle
I
I
Bartels
G
G
Salinas-Riester
F
F
Laccone
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*