[X short arm deletion and Turner syndrome. A new case 46, X, del (X) (p11) (author's transl)].
From a new case of a young woman with a rare X short arm deletion on band 11 and review of literature, it is suggested that loss of short arm by juxta-centromeric break does not involve complete somatic Turner syndrome. Short stature depends on distal deletion (p21 or p22). The p11 - p21 segment of X chromosome carries a gene essential for gonadal development.
D000328:Adult; D002872:Chromosome Deletion; D005260:Female; D006801:Humans; D012730:Sex Chromosomes; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome
Délétion du petit bras d'un chromosome X et syndrome de Turner. Un nouveau cas : 46, X, del (X) (p11).