-transparent.png){kind=logo}
We report on a 9 2/12 year old girl with pericentric inversion of the X-chromosome. It was diagnosed accidentally by a chromosome-analysis led through because of small stature. She bears a strong phenotypic resemblance to her mother (normal chromosomes), carrier of the pericentric inversion however is the phenotypically normal father. The breakpoint of the X-chromosome not lying within the critical region suggests that the patient will neither suffer a gonadal dysfunction. Both short stature and phenotypic dysmorphic features have familial cause.
Related Publications
R Beyer, and
F Wild, and
H Singer, and
R Pfeiffer, and
H G Dörr
January 1984,
Annales de genetique,
R Beyer, and
F Wild, and
H Singer, and
R Pfeiffer, and
H G Dörr
May 1974,
Ceskoslovenska pediatrie,
R Beyer, and
F Wild, and
H Singer, and
R Pfeiffer, and
H G Dörr
January 1987,
The Journal of heredity,
R Beyer, and
F Wild, and
H Singer, and
R Pfeiffer, and
H G Dörr
December 1978,
Human genetics,
R Beyer, and
F Wild, and
H Singer, and
R Pfeiffer, and
H G Dörr
January 1986,
Prenatal diagnosis,
R Beyer, and
F Wild, and
H Singer, and
R Pfeiffer, and
H G Dörr
April 1983,
Journal of medical genetics,
R Beyer, and
F Wild, and
H Singer, and
R Pfeiffer, and
H G Dörr
January 1973,
Nature: New biology,
R Beyer, and
F Wild, and
H Singer, and
R Pfeiffer, and
H G Dörr
December 1999,
American journal of medical genetics,
R Beyer, and
F Wild, and
H Singer, and
R Pfeiffer, and
H G Dörr
January 1986,
Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion,
R Beyer, and
F Wild, and
H Singer, and
R Pfeiffer, and
H G Dörr
January 1984,
Annales de genetique,
