Gene dosage change of TPTE and BAGE2 and breakpoint analysis in Robertsonian Down syndrome.
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.
Shaw
Sheng-Wen
SW
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.
Chen
Chih-Ping
CP
Department of Obstetrics and Gynecology, and Medical Research, Mackay Memorial Hospital, Taipei, Taiwan.|Department of Biotechnology, Asia University, Taichung, Taiwan.
Cheng
Po-Jen
PJ
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, 333, Taiwan.|Chang Gung University College of Medicine, Taoyuan, Taiwan.
Wang
Tzu-Hao
TH
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, 333, Taiwan.|Chang Gung University College of Medicine, Taoyuan, Taiwan.
Hou
Jia-Woei
JW
Chang Gung University College of Medicine, Taoyuan, Taiwan.|Department of Pediatrics, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan.
Lin
Cheng-Tao
CT
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, 333, Taiwan.|Chang Gung University College of Medicine, Taoyuan, Taiwan.
Chang
Shuenn-Dhy
SD
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, 333, Taiwan.|Chang Gung University College of Medicine, Taoyuan, Taiwan.
Hwa
Hsiao-Lin
HL
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.
Lin
Ju-Li
JL
Chang Gung University College of Medicine, Taoyuan, Taiwan.|Department of Pediatrics, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiwan.
Chao
An-Shine
AS
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, 333, Taiwan.|Chang Gung University College of Medicine, Taoyuan, Taiwan.
Soong
Yung-Kuei
YK
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, 333, Taiwan.|Chang Gung University College of Medicine, Taoyuan, Taiwan.
Hsieh
Fon-Jou
FJ
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.
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*
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