| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| Outline of Final Research Achievements |
The partial trisomy 2p24 has been reported to be associated with NTDs such as anencephaly, encephalocele, and spina bifida. We report the cases of 2 siblings with trisomy 2p24.3pter and monosomy 5p14.3pter caused by paternal translocation t(2;5)(p24.3;p14.3). Of the 2 siblings, the elder sister had spina bifida. We determined the nucleotide sequences of chromosomal breakpoints and found that the sizes of trisomy 2p and monosomy 5p segments were 18.77 and 17.89 Mb, respectively. NTDs were present in 4 of 7 previously reported patients as well as in 1 patient examined of the present study. Comparison of clinical features of the patients with trisomy 2p and monosomy 5p including our cases, we identified characteristic features of trisomy 2p24.3pter. Increased gene dosages of dosage sensitive genes or genes at the trisomy segment (2p24.3) of the presented patients could be associated with NTDs of patients with trisomy 2p.
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