Identification of the parental origin of polysomy in two 49,XXXXY cases.

Celik A., Eraslan S., Gokgoz N., Ilgin H., Basaran S., Bokesoy I., ...More

Clinical genetics, vol.51, no.6, pp.426-9, 1997 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 51 Issue: 6
  • Publication Date: 1997
  • Doi Number: 10.1111/j.1399-0004.1997.tb02504.x
  • Journal Name: Clinical genetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.426-9
  • Keywords: (CA)(n) repeats, nondisjunction, polysomy X, RFLP analysis, 49,XXXXY, BECKER MUSCULAR-DYSTROPHY, PRENATAL-DIAGNOSIS, X-CHROMOSOME, NONDISJUNCTION, POLYMORPHISMS, REPEAT, DUCHENNE, FAMILIES, CARRIER, REGION
  • Istanbul University Affiliated: Yes

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), 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.