title: PCR protocol to detect parental origin and hidden mosaicism inSex chromosome aneuploidies.
abstract: In this study, we report an accurate method to determine the parental origin of sex chromosome aneuploidies or polyploidies and to detect low percentage mosaicisms. We have amplified by polymerase chain reaction (PCR) five polymorphic markers along the X chromosome (DXS1283E, DYS II, DMD49, AR and DXS52) and three markers along the Y chromosome (SRY, DYZ3 and DYZ1). False-negative results were discarded by the simultaneous amplification of Y markers and of internal controls. We have applied this protocol to a series of 14 Turner syndrome patients with a 45,X karyotype. We have detected sex chromosome mosaicisms in two patients. The parental origin of the syndrome has been determined in the other 12 patients.
authors.affiliation: Dept. de Biologia Cellular i Fisiologia, Facultat de Ciències, Universitat Autònoma de Barcelona, Bellaterra, Spain.
authors.forename: O
authors.initials: O
authors.lastname: Martínez-Pasarell
authors.forename: C
authors.initials: C
authors.lastname: Templado
authors.forename: J
authors.initials: J
authors.lastname: Egozcue
authors.forename: E
authors.initials: E
authors.lastname: Vicens-Calvet
authors.forename: C
authors.initials: C
authors.lastname: Nogués
mesh_terms: D005260:Female; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D010290:Parents; D016133:Polymerase Chain Reaction; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D005819:Genetic Markers