Table 1 The BAC probes distribution in BoBs assay
Syndrome | Target region | Number of probes |
|---|---|---|
Trisomy 13 | 13q13.3-13q21.2 | 5 |
Trisomy 18 | 18p11.32-18q22.1 | 5 |
Trisomy 21 | 21q22.11-21q22.3 | 5 |
Trisomy X | Xp22.31-Xp27.3 | 5 |
Trisomy Y | Ypll.2-Yqll.23 | 5 |
Wolf-Hirschhorn | 4p16.3 | 5 |
Cri du Chat | 5p15.2-5p15.3 | 8 |
Williams-Beuren | 7q11.2 | 5 |
Langer-Giedion | 8q23-8q24 | 7 |
Prader-Willi/Angelman | 15q11-15q12 | 7 |
Miller-Dieker | 17p13.3 | 6 |
Smith-Magenis | 17p11.2 | 4 |
DiGeorgeI | 22q11.2 | 4 |
DiGeorgeII | 10p14 | 4 |