PMID: 697225Oct 1, 1978Paper

Familial Turner syndrome

Annals of Internal Medicine
D A LeichtmanK L Meilinger

Abstract

Seven women in three generations of a family have been affected by Turner syndrome. Turner phenotype in this family is the result of deletion of the entire short arm of one X chromosome. The short arm deletion is transmitted by carriers of a balanced X-1 translocation. Autoradiographic findings showed that the deleted X chromosome was late labeling in those persons with Turner syndrome, whereas the normal X chromosome was late replicating in carriers of the balanced translocation. The results of Xga typing of erythrocytes suggest that the Xg locus is on the short arm of the X chromosome. Because of the clinical implications, we believe that families of persons with structural chromosomal abnormalities should be studied to exclude familial transmission.

Citations

Apr 1, 1997·Psychiatry and Clinical Neurosciences·C KawanishiK Ishii
May 4, 2016·Current Research in Translational Medicine·N Bougacha-ElleuchM Abid
Feb 28, 2003·American Journal of Medical Genetics. Part a·M S PeñaherreraW P Robinson
Jun 19, 2012·Endocrine Reviews·Kristian H MortensenClaus H Gravholt
Oct 1, 1981·Annals of the Rheumatic Diseases·A G FamL From
Feb 1, 1989·Clinical Genetics·M TyrkusK M Kraemer-Flynn
Nov 1, 1994·Clinical Genetics·A S KherB A Bharucha
Mar 1, 1981·Clinical Genetics·M J Welch, R S Sparkes
Apr 1, 1982·Clinical Genetics·R YoultonR Cruz-Coke

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