title: Are t(X;Y) (p22;q11) translocations in females frequently associated with Madelung deformity?
abstract: We report a female with a de novo 46,X,der(X)t(X;Y) (p22;q12) translocation who presented with short stature, mild clinical features of Turner syndrome and a Madelung deformity. It appears that some particular radiological and/or clinical skeletal features are common in females carrying X-Y translocation. Based on the corresponding papers and on clinical findings of our patient we discuss the significance of Madelung deformity encountered in X-Y translocations, dyschondrosteosis and Turner syndrome.
authors.affiliation: Service de génétique, Hôpital Bretonneau, Tours, France.
authors.forename: A
authors.initials: A
authors.lastname: Guichet
authors.forename: S
authors.initials: S
authors.lastname: Briault
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: C
authors.initials: C
authors.lastname: Moraine
mesh_terms: D000328:Adult; D001827:Body Height; D001842:Bone and Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D014178:Translocation, Genetic; D014424:Turner Syndrome; D014960:X Chromosome; D014998:Y Chromosome