Pedigree No. | Carrier gender | Genetic description of karyotyping | Breakpoints by ViLR analysis (hg 19) | Disrupted gene breakpoints (intragenic/intergenic) | Phase of clinical PGT-SR cycle |
---|---|---|---|---|---|
PSJ22007 | Male | 46,XY, t(2;15)(p21;q26.1) | chr2: 36,702,101; chr15: 100,682,799 | CRIM1: intron5; ADAMTS17: intron10 | Prenatal diagnosis finished and a healthy baby delivered |
PSJ22019 | Male | 46,XY, t(1;7)(q42;q11.2) | chr1: 235,334,249; chr7: 77,004,459 | ARID4B: intron23; GSAP: intron10 | No available embryos |
PSJ22015 | Male | 46,XY, t(3;22)(q24;q12) | chr3: 132,423,676; chr22: 20,655,812 | NPHP3: intron8; FAM230J: intron1 | No available embryos |
PSJ23002 | Male | 46,XY, t(6;13)(p21.1;p12) | chr6: 42,996,416; chr13: undetectable | RRP36: intron6; undetectable | Failed ET at the first cycle |
PSJ23008 | Female | 46,XX, t(8;17)(p23.2;q25) | chr8: 3,146,675; chr17: 74,040,722 | CSMD1: intron25; SRP68: intron11 | Prenatal diagnosis finished and a healthy baby delivered |
PSJ23011 | Female | 46,XX, inv(7)(p14q21) | chr7: 33,669,203; chr7: 86,843,221 | BBS9: intron22; TMEM243: intron2 | Prenatal diagnosis finished and a healthy baby delivered |
PSJ23012 | Male | 46,XY, t(1;18)(q24;q21.2) | chr1: 176,251,882; chr18: 58,488,969 | COP1-PAPPA2 (intergenic); MC4R-CDH29 (intergenic) | Prenatal diagnosis finished and a healthy baby delivered |
PSJ23019 | Female | 46,XX, t(1;11)(p22;p13) | chr1: 90,088,859; chr11: 33,317,308 | LRRC8B-LRRC8C-DT (intergenic); HIPK3: intron2 | Abortion at gestational age of 7 weeks with unknown reason |
PSJ23021 | Male | 46,XY, t(7;22)(p15;q11.2) | chr7: 23,030,769; chr22: 18,976,664 | FAM126A: intron1; DGCR5: intron2 | Had not been involved in ovarian stimulation cycle |
PSJ24002 | Female | 46,XX, inv(20)(p13q11.2) | chr20: 6,582,577; chr20: 31,663,698 | CASC20-LINC01713 (intergenic); BPIFB3-BPIFB4 (intergenic) | Successful pregnancy but inaccessible prenatal diagnosis |