title: Dup(13)(q14.2-q14.3): yet another new differential diagnostic aspect for short stature-like phenotype.
abstract: We report on the case of a pregnant woman with hyposomia who was previously suspected of having Turner syndrome. Prenatal cytogenetic diagnostics showed a fetal karyotype of 46,XX,dup(13)(q14.2q21.1) ish.13q14(RB1 x 3). Parental and grandparental chromosome analyses were performed and the dup(13) was found to be of maternal origin (de novo). The pregnancy was continued and a healthy female child was born with normal development apart from growth retardation. The reported chromosomal aberration is, together with two other cases reported in the literature, the first hint of a short stature-like phenotype due to dup(13)(q14.2q14.3).
authors.affiliation: Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07743 Jena, Germany.
authors.forename: Isolde
authors.initials: I
authors.lastname: Schreyer
authors.forename: Annett
authors.initials: A
authors.lastname: Neumann
authors.forename: Volkmar
authors.initials: V
authors.lastname: Beensen
authors.forename: Karl-Heinz
authors.initials: KH
authors.lastname: Eichhorn
authors.forename: Anita
authors.initials: A
authors.lastname: Heller
authors.forename: Uwe
authors.initials: U
authors.lastname: Claussen
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
mesh_terms: D000328:Adult; D001827:Body Height / Q000235:genetics*; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis