Article
Karyotype/phenotype correlation in females with short stature.
Clinical genetics - 1 Mar 1992
Temtamy S A, Ghali I, Salam M A, Hussein F H, Ezz E H, Salah N
Abstract excerpt
We studied 60 females who presented with short stature. The main aim was to determine the effect of karyotype variation on phenotype. A somatic feature score was calculated for each case depending on the presence of 17 clinical somatic changes known to occur in Turner syndrome. Karyotype studies showed the following results: 45,X (n = 22): 46,XX (n = 11); 45,X/46,XX (n = 10); 46,XX/46,Xi(Xq) (n = 4);...
Topics
- Adolescent
- Adult
- Body Height
- Child
- Child, Preschool
- Female
- Humans
- Karyotyping
- Phenotype
- X Chromosome