<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>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.</p></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.

Parental Origin and Cell Stage Errors in X-Chromosome Polysomy 49, XXXXY

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

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

Balkan Journal of Medical Genetics

{"article-title":"Parental Origin and Cell Stage Errors in X-Chromosome Polysomy 49, XXXXY"}

Polysomy 49, XXXXY is a rare sex chromosome aneuploidy syndrome characterized by mental retardation, severe speech impairment, craniofacial abnormalities,...

Parental Origin and Cell Stage Errors in X-Chromosome Polysomy 49, XXXXY

Publié en ligne: 09 oct. 2009

Pages: 45 - 50

DOI: https://doi.org/10.2478/v10034-009-0003-y

Mots clés
Tetrasomy X syndrome, 49, XXXXY, Quantitative fluorescent polymerase chain reaction (QF-PCR), Short tandem repeat (STR) markers, Parental origin

This content is open access.

Parental Origin and Cell Stage Errors in X-Chromosome Polysomy 49, XXXXY

Publié en ligne: 09 oct. 2009

Pages: 45 - 50

DOI: https://doi.org/10.2478/v10034-009-0003-y

Mots clésTetrasomy X syndrome, 49, XXXXY, Quantitative fluorescent polymerase chain reaction (QF-PCR), Short tandem repeat (STR) markers, Parental origin

This content is open access.

Mots clés
Tetrasomy X syndrome, 49, XXXXY, Quantitative fluorescent polymerase chain reaction (QF-PCR), Short tandem repeat (STR) markers, Parental origin