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Table 1 Genetic information of carriers examined with ViLR

From: ViLR: a novel virtual long read method for breakpoint identification and direct SNP haplotyping in de novo PGT-SR carriers without a proband

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