title: Gene dosage change of TPTE and BAGE2 and breakpoint analysis in Robertsonian Down syndrome.
abstract: Only 4% of Down syndrome (DS) cases have a Robertsonian translocation (ROB). The aim of this study was to define the possible breakage area in 21p where ROB occurs. We prospectively and consecutively collected ten cases ROB DS from three medical centers. Of the ten DS children, six were de novo (60%), and four were due to paternal or maternal inheritance (40%). They consisted of four der(21q;21q), four der(14q;21q), one der(13q;21q), and one der(21q;22q). The origin of the extra chromosome 21q was maternal in five of six de novo ROB and paternal in one case. All four der(21;21) ROB DS were an isochromosome. The result of gene dosage change by real-time quantitative polymerase chain reaction (PCR) was compatible with array-comparative genomic hybridization in one case. We further used real-time PCR to detect the copy number of TPTE and BAGE2 located on 21p11 and SAMSN1 on 21q11. The ratio of copy number in 21p:21q was 1:3 in der(21q;21q) but 2:3 in der(13q;21q), der(14q;21q), and der(21q;22q). Our preliminary results demonstrated the critical breakpoint of chromosome 21 involving ROB might lie between BAGE2 and the centromere, located from 10.1 to 12.3 Mb.
authors: Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, 333, Taiwan.|Chang Gung University College of Medicine, Taoyuan, Taiwan.|Institute of Molecular Medicine, National Taiwan University College of Medicine, Taipei, Taiwan.
authors: Sheng-Wen
authors: SW
authors: Shaw
authors: Department of Obstetrics and Gynecology, and Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.|Department of Biotechnology, Asia University, Taichung, Taiwan.
authors: Chih-Ping
authors: CP
authors: Chen
authors: Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, 333, Taiwan.|Chang Gung University College of Medicine, Taoyuan, Taiwan.
authors: Po-Jen
authors: PJ
authors: Cheng
authors: Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, 333, Taiwan.|Chang Gung University College of Medicine, Taoyuan, Taiwan.
authors: Tzu-Hao
authors: TH
authors: Wang
authors: Chang Gung University College of Medicine, Taoyuan, Taiwan.|Department of Pediatrics, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan.
authors: Jia-Woei
authors: JW
authors: Hou
authors: Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, 333, Taiwan.|Chang Gung University College of Medicine, Taoyuan, Taiwan.
authors: Cheng-Tao
authors: CT
authors: Lin
authors: Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, 333, Taiwan.|Chang Gung University College of Medicine, Taoyuan, Taiwan.
authors: Shuenn-Dhy
authors: SD
authors: Chang
authors: Institute of Molecular Medicine, National Taiwan University College of Medicine, Taipei, Taiwan.|Department of Obstetrics and Gynecology, National Taiwan University Hospital, No. 7 Chung-Shan South Road, Taipei, Taiwan.
authors: Hsiao-Lin
authors: HL
authors: Hwa
authors: Chang Gung University College of Medicine, Taoyuan, Taiwan.|Department of Pediatrics, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan.
authors: Ju-Li
authors: JL
authors: Lin
authors: Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, 333, Taiwan.|Chang Gung University College of Medicine, Taoyuan, Taiwan.
authors: An-Shine
authors: AS
authors: Chao
authors: Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, 333, Taiwan.|Chang Gung University College of Medicine, Taoyuan, Taiwan.
authors: Yung-Kuei
authors: YK
authors: Soong
authors: Institute of Molecular Medicine, National Taiwan University College of Medicine, Taipei, Taiwan. fjhsieh@ntu.edu.tw.|Department of Obstetrics and Gynecology, National Taiwan University Hospital, No. 7 Chung-Shan South Road, Taipei, Taiwan. fjhsieh@ntu.edu.tw.
authors: Fon-Jou
authors: FJ
authors: Hsieh
mesh_terms: D033942:Adaptor Proteins, Vesicular Transport / Q000235:genetics; D000328:Adult; D000951:Antigens, Neoplasm / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D019457:Chromosome Breakage; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D018628:Gene Dosage; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011446:Prospective Studies; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D033942:Adaptor Proteins, Vesicular Transport; D000951:Antigens, Neoplasm; C490498:BAGE2 protein, human; D008565:Membrane Proteins; D012333:RNA, Messenger; C435526:SAMSN1 protein, human; C446603:TPTE protein, human; D051059:PTEN Phosphohydrolase