Table 1 Summarry of case information, original karyotypes and OGM results in 4 cases
From: Identification of complex and cryptic chromosomal rearrangements by optical genome mapping
Case | Age (years) | Clinical data | Original karyotype | Revised karyotype by OGM | CCRs or CR |
|---|---|---|---|---|---|
1M | 30 | Infertility, Cryptozoospermia, Wife with early spontaneous miscarriage | 46,X,Yqh + ,?del(21)(q21),add(22)(p13) | 46,X,Yqh + ,t(3;21)(q27.1;q21.2),t(21;22)(q21.1;p11.2) | CCRs |
2F | 32 | Infertility | 46,XX,?ins(8;X)(q21.2;q22.2q22.1) | 46,X,der(X)del(X)(q22.2q24),ins(10;X)(q26.12;q23q23), inv(8)(q21.2q24.3) | CCRs |
3F | 28 | Early spontaneous miscarriages | 46,XX,t(1;14)(p31;q21),ins(16;5)(q21;q15q13.1), der(5)inv(5)(q12q13.1)ins(16;5)(q21;q15q13.1) | 46,XX,t(1;14)(p31;q21),ins(16;5)(q21;q15q12.3cth) | CCRs |
4M | 31 | Fetus with unbalanced CNV | 46,XY | 46,XY,t(2;9)(q37.3;p24.1) | CR |