title: Identification of the parental origin of polysomy in two 49,XXXXY cases.
abstract: The parental origin and mechanism of formation of polysomy X were studied in two polysomic cases, using four X-linked restriction fragment length polymorphisms, three (CA)n dinucleotide repeat sequences and one variable number tandem repeat (VNTR) locus as genetic markers. A nonradioactive technique based on the hybridization of the polymerase chain reaction (PCR) product was developed for the analysis of dinucleotide repeats. Segregation analysis using different nonradioactive approaches based on the PCR, revealed that all four X chromosomes were of maternal origin. These data provide additional evidence of an identical mechanism of successive nondisjunctions in maternal meiosis I and II.
authors.affiliation: Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey.
authors.forename: A
authors.initials: A
authors.lastname: Celik
authors.forename: S
authors.initials: S
authors.lastname: Eraslan
authors.forename: N
authors.initials: N
authors.lastname: Gökgöz
authors.forename: H
authors.initials: H
authors.lastname: Ilgin
authors.forename: S
authors.initials: S
authors.lastname: Başaran
authors.forename: I
authors.initials: I
authors.lastname: Bökesoy
authors.forename: H
authors.initials: H
authors.lastname: Kayserili
authors.forename: M
authors.initials: M
authors.lastname: Yüksel-Apak
authors.forename: B
authors.initials: B
authors.lastname: Kirdar
mesh_terms: D000328:Adult; D000782:Aneuploidy; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002658:Developmental Disabilities / Q000235:genetics; D018900:Dinucleotide Repeats; D004200:Diseases in Twins; D005145:Face / Q000002:abnormalities; D005260:Female; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D012091:Repetitive Sequences, Nucleic Acid; D014429:Twins, Dizygotic; D014960:X Chromosome
chemical_list: D005819:Genetic Markers