PARENTAL ORIGIN AND CELL STAGE ERRORS IN X-CHROMOSOME POLYSOMY 49,XXXXY


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GÜZEL A. B. , DEMİRHAN O. , PAZARBAŞI A. , YÜKSEL B.

BALKAN JOURNAL OF MEDICAL GENETICS, cilt.12, ss.45-50, 2009 (SCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 12 Konu: 1
  • Basım Tarihi: 2009
  • Doi Numarası: 10.2478/v10034-009-0003-y
  • Dergi Adı: BALKAN JOURNAL OF MEDICAL GENETICS
  • Sayfa Sayıları: ss.45-50

Özet

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.