De novo duplication xq22-q23 in a girl with short stature and gonadal dysgenesis.
A female of 20 years of age with short stature, gonadal dysgenesis and Turner stigmata with a de novo dup Xq22-q23 was studied. The maternal cytogenetic study was normal. This case represents the smallest Xq duplication in an abnormal female. We discuss the possibility of a maternal imprinting.
Correa-Cerro
L
L
División de Genética, Universidad de Guadalajara, Jalisco, Mexico.
Garcia-Cruz
D
D
Ruiz
M X
MX
Sanchez-Corona
J
J
D000328:Adult; D002871:Chromosome Banding; D005260:Female; D020440:Gene Duplication; D006801:Humans; D012729:Sex Chromosome Aberrations; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome