PARENTAL ORIGIN AND CELL STAGE ERRORS IN X-CHROMOSOME POLYSOMY 49,XXXXY
Guzel AI1,*, Demirhan O1, Pazarbasi A1, Yuksel B2
*Corresponding Author: Ali Irfan Guzel, Ph.D., Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, 01330 Adana, Turkey; Tel.: +90-322-338-70-68; Fax: +90-322-338-70-65; E-mail: aliirfan@cu.edu.tr
page: 45
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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.

Key words: Tetrasomy X syndrome; 49,XXXXY; Quantitative fluorescent polymerase chain reaction (QF-PCR); Short tandem repeat (STR) markers; Parental origin
 

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1 Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, Adana, Turkey

2 Department of Pediatrics, Çukurova University, Faculty of Medicine, Adana, Turkey




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