PARENTAL ORIGIN AND CELL STAGE ERRORS IN X-CHROMOSOME POLYSOMY 49,XXXXY
BALKAN JOURNAL OF MEDICAL GENETICS, cilt.12, sa.1, ss.45-50, 2009 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 12 Sayı: 1
- Basım Tarihi: 2009
- Doi Numarası: 10.2478/v10034-009-0003-y
- Dergi Adı: BALKAN JOURNAL OF MEDICAL GENETICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.45-50
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Çukurova Üniversitesi Adresli: Evet
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.