Parental origin and cell stage errors in x-chromosome polysomy 49, xxxxy

Guzel A. İ., DEMİRHAN O., PAZARBAŞI A., YÜKSEL B.

Balkan Journal of Medical Genetics, vol.12, no.1, pp.45-50, 2009 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 12 Issue: 1
  • Publication Date: 2009
  • Doi Number: 10.2478/v10034-009-0003-y
  • Journal Name: Balkan Journal of Medical Genetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.45-50
  • Keywords: 49, XXXXY, Parental origin, Quantitative fluorescent polymerase chain reaction (QF-PCR), Short tandem repeat (STR) markers, Tetrasomy X syndrome
  • Bilecik Şeyh Edebali University Affiliated: No

Abstract

Polysomy 49, XXXXY is a rare sex chromosome aneuploidy syndrome characterized by mental retardation, severe speech impairment, craniofacial abnormalities, multiple skeletal defects and genital abnormalities. We describe a patient with 49, XXXXY syndrome who had many characteristics of Fraccaro syndrome; language impairment, mongoloid slant, epicanthal folds, cryptorchidism, umbilical hernia and dysmyelinization in his brain. A GTG-banding technique was used for karyotype analysis of peripheral blood cell cultures. The parental origin of polysomy X was identified by using quantitative fluorescent polymerase chain reaction (QF-PCR) with seven short tandem repeat (STR) markers specific for the X/Y-chromosome which revealed that all the X-chromosomes were of maternal origin. This report provides evidence for successive non disjunctions in maternal meiosis I and II.