| Inborn chromosome abnormalities (Population cytogenetics) |
| . | ||||||||||||||||||||||||||
| Study populations and [references] | No. of subjects | Sex chromosomal (number; frequency in 0/00 of M or F) | Autosomal (number; frequency in 0/00) | |||||||||||||||||||||||
| Male (M) | Female (F) | Trisomy | Unbalanced | Balanced | ||||||||||||||||||||||
| Male | Female | Total | 47,XXY | 47,XYY | Other | 45,X | 47,XXX | Other | +D | +E | +G | Other | robTr | recTr | Inv | Del | +mar | Other | D/D | D/G | recTr | Inv | ||||
| In utero* | [1] Japanese | 2,707 | 1(0.369) | 0 | 1(0.369) | 9(3.325) | 1(0.369) | 3(1.108) | 3(1.108) | 3(1.108) | 9(3.325) | 4(1.478)** | 0 | 0 | 0 | 1(0.369) | 1(0.369) | 0 | 3(1.108) | 0 | 0 | 0 | ||||
| Newbons | [2] Caucasian | 39,090 | 20,375 | 59,465 | 36(0.921) | 35(0.895) | 34(0.870) | 2(0.098) | 20(0.982) | 7(0.344) | 3(0.051) | 7(0.118) | 75(1.261) | 3(0.051) | 4(0.067) | 7(0.118) | 0 | 5(0.084) | 12(0.202) | 6(0.101) | 41(0.690) | 12(0.202) | 54(0.908) | 9(0.151) | ||
| [3] Japanese | 4,951 | 4,651 | 9,602 | 3(0.606) | 5(1.010) | 4(0.808) | 1(0.215) | 3(0.645) | 9(1.935) | 0 | 1(0.104) | 8(0.833) | 0 | 3(0.312) | 1(0.104) | 0 | 3(0.312) | 3(0.312) | 0 | 8(0.833) | 3(0.312) | 3(0.312) | 1(0.104) | |||
| Total | 44,041 | 25,026 | 69,067 | 39(0.886) | 40(0.906) | 38(0.863) | 3(0.120) | 23(0.919) | 16(0.639) | 3(0.101) | 8(0.116) | 83(1.202) | 3(0.043) | 7(0.101) | 8(0.116) | 0 | 8(0.116) | 15(0.217) | 6(0.087) | 49(0.710) | 15(0.217) | 57(0.825) | 10(0.145) | |||
| Newborns* | [4] Caucasian | 5,304 | 4,945 | 10,249 | 9(1.697) | 9(1.697) | 7(1.320) | 6(1.213) | 4(0.809) | 0 | 0 | 2(0.195) | 11(1.073) | 2(0.195) | 0 | 0 | 0 | 0 | 3(0.293) | 7(0.683) | 8(0.781) | 2(0.195) | 18(1.756) | 6(0.585) | ||
| Youngs* | [5] 8-9y Caucasian | 2,186 | 2,156 | 4,342 | 0 | 3(1.372) | 2(0.915) | 0 | 0 | 5(1.856) | 0 | 0 | 2(0.195) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 3(0.691) | 0 | 5(1.152) | 1(0.230) | ||
| Adults* | [6] Caucasian | 1,302 | 103 | 1,405 | 0 | 0 | 0 | 0 | 2(1.536) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1(0.712) | 0 | 2(1.424) | 1(0.712) | 4(2.847) | 12(8.541) | ||
| Infertile men* | [7] Caucasian | 3,568 | - | 3,568 | 103(28.868) | 9(2.522) | 91(25.505) | - | - | - | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 7(1.962) | 0 | 26(7.287) | 6(1.682) | 21(5.686) | 7(1.962) | ||
| [8] Japanese | 666 | - | 666 | 8(12.012) | 3(4.505) | 6(9.009) | - | - | - | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 3(4.505) | 1(1.502) | 13(19.520) | 0 | |||
| Total | 4,234 | - | 4,234 | 111(26.216) | 12(2.835) | 97(22.910) | - | - | - | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 7(1.653) | 0 | 29(6.849) | 7(1.653) | 34(8.030) | 7(1.653) | |||
| A-bomb F1 | [9] parental exposure | F1 study; Children born between May 1946 and the end of 1972 to parents, one or both of whom were within 2 km ATB (exposed cohort) or were beyond 2.5 km or not in city (unexposed cohort). | ||||||||||||||||||||||||
| Mother only | 2,260 | 2,613 | 4,873 | 5(1.923) | 1(0.443) | 1(0.443) | 0 | 1(0.383) | 1(0.383)0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 2(0.410) | 3(0.616) | 1(0.205) | 2(0.410) | 1(0.205) | |||
| Father at least | 1,654 | 1,795 | 3,449 | 2(1.209) | 2(1.209) | 1(0.605) | 0 | 4(2.228) | 1(0.557) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 2(0.580) | 1(0.290) | 4(1.160) | 2(0.580) | 5(1.450) | 0 | |||
| Total | 3,914 | 4,408 | 8,322 | 7(1.789) | 3(0.7687) | 2(0.511) | 0 | 5(1.134) | 2(0.454) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 2(0.240) | 3(0.361) | 7(0.841) | 3(0.361) | 7(0.841) | 1(0.120) | |||
| Unexposed | 3,682 | 4,294 | 7,976 | 9(2.444) | 5(1.358) | 2(0.543) | 0 | 4(0.932) | 4(0.932) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 2(0.251) | 6(0.752) | 0 | 13(1.630) | 6(0.752) | |||
| Newborns | [10] Kerala, India | 14,062 | 13,233 | 27,295 | 11(0.782) | 13(0.924) | 8(0.562) | 0 | 6(0.453) | 11(0.831) | 3(0.110) | 4(0.147) | 30(1.099) | 0 | combined with balanced type | 10(0.366) | 3(0.110) | 13(0.476) | 29(1.406) | 17(0.623) | ||||||
| *) G- or Q-band analysis. Others are principally by conventional Giemsa staining **) Additional one fetus with triploid (3n). | ||||||||||||||||||||||||||
| 1) Numbers in parentheses are the frequency per 1000 subjects of corresponding sex. 2) "Ohers" are mostly mosaicism. | ||||||||||||||||||||||||||
| 3) In infertile men, robD/D, robD/G and recTr men were all new mutations, and "Others" in sex chromosome abnormalities include 12 cases (2.834 o/oo) of structural changes involving sex chomosomes while the rest are mosaics. | ||||||||||||||||||||||||||
| 4) In A-bomb F1, one recTr born to the exposed father and another born to unexposed parent were new mutation, but perental oigin of other recTr was not determined. | ||||||||||||||||||||||||||
| 5) The newborn study in Kerala, India, was performed on cord blood of newborns born to parents residing in high background radiation area (&rt;1.5 mGy/year) and normal background radiation area (≤1.5 mGy/year) on 17,298 and 9,997 newborns, respectively. | . | |||||||||||||||||||||||||
| Since the authors concluded that the there was not statistical difference in the frequencies of abnormal karyotypes between high and normal background radiation of parents, the two groups are combined in the table. | ||||||||||||||||||||||||||
| In this study, the balanced and unbalanced nature of autosomal structural aberrations was not specified. Robertsonia, translocations, reciprocal translocations and inversions are listed as "balanced types" in the table. | ||||||||||||||||||||||||||
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| Supplementary notes: (1) Suppression of meiotic progression of de novo translocations. (2) Doubling dose assessment for sex chromosome aneuploidy of A-bomb radiation |