Deletion of the short arm of the X chromosome: a hereditary form of Turner syndrome

G Massa; M Vanderschueren-Lodeweyckx; J P Fryns

doi:10.1007/BF01954124

Deletion of the short arm of the X chromosome: a hereditary form of Turner syndrome

Eur J Pediatr. 1992 Dec;151(12):893-4. doi: 10.1007/BF01954124.

Authors

G Massa¹, M Vanderschueren-Lodeweyckx, J P Fryns

Affiliation

¹ Department of Paediatrics, University of Leuven, Belgium.

PMID: 1473542
DOI: 10.1007/BF01954124

Abstract

In the mothers of two girls with Turner syndrome due to a deletion of the short arm of an X chromosome, the same chromosomal anomaly was detected. Both mothers and daughters had short stature but normal pubertal development. Short parents and normal pubertal development do not exclude Turner syndrome in a girl with small stature.

Publication types

Case Reports

MeSH terms

Child
Chromosome Deletion*
Female
Humans
Turner Syndrome / diagnosis
Turner Syndrome / genetics*
X Chromosome*