Table 2. Summary of results.
| Patienta | Sex | Ethnicity | Indication | Conventional karyotype | FISHb | Array mapping | Amplicon | EV copy number | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 1 | F | Middle European | FH ID and CF | 46,XX,var(8)(q21.2q21.2) | 96G1 enh | — | |||
| 2 | M | Middle European | Fertility problems | 46,XY,var(8)(q21.2q21.2) | 96G1 enh | — | ?123 kb | ?3 | 9 |
| 3 | M | Japanese | Azoospermia | 46,XY,var(8)(q21.2q21.2) | 96G1 enh | — | |||
| 1 | F | Palestinian | Recurrent miscarriages | 46,XY,var(8)(q21.2q21.2) | 96G1 enh, 90G23 enh | 292 kb | — | — | |
| 2 | F | Caucasian | Secondary amenorrhoea | 46,XX,var(8)(q21.2q21.2) | 96G1 enh, 90G23 enh | — | — | — | |
| 3 | M | Canadian | Autism | 46,XY,var(8)(q21.2q21.2) | 96G1 enh, 90G23 enh | — | — | — | Present paper |
| 4 | F | Middle European | MCA | mos 46,XX/47,XX,+9,var(8)(q21.2q21.2) | 96G1 enh, 90G23 enh | 284 kb | 12 kb | 265 | |
| Father of 4 | M | Czech | Daughter | 46,XY,var(8)(q21.2q21.2) | 96G1 enh, 90G23 enh | — | 12 kb | 270 |
Abbreviations: CF, cystic fibrosis; enh, enhanced; F, female; FH, family history; ID, intellectual difficulties; kb, kilobase pairs; M, male; Mb, Megabase pairs; MCA, multiple congenital anomalies; var, variant.
a
Patients from present paper are in bold.
b
All BACs from the RP11-library. ? used as an amplicon of 123 kb and EV copy number of 3 was implied but not proven in reference 9.