Table 3 MLPA probemix composition
Gene/Region | Genomic location | Probe size | Band | Comments |
|---|---|---|---|---|
ENm323 | chr6:108,723,531–108,723,590 | 126 | 6q21 | single copy number region |
ENm013 | chr7:90,250,124–90,250,183 | 105 | 7q21.13 | single copy number region |
ENm014 | chr7:126,866,339–126,866,393 | 99 | 7q31.33 | single copy number region |
RNAseP (RPP30) | chr10:92,621,710–92,621,757 | 90 | 10q23.31 | single copy number region |
ENr222 | chr10:92,621,710–92,621,757 | 147 | 6q23.2 | single copy number region |
ENr111 | chr13:29,519,123–29,519,182 | 123 | 13q12.3 | single copy number region |
ENr233 | chr15:41,662,068–41,662,127 | 141 | 15q15.3 | single copy number region |
ENm313 | chr16:61,141,268–61,141,327 | 114 | 16q21 | single copy number region |
ENr213 | chr18:24,170,726–24,170,785 | 132 | 18q12.1 | single copy number region |
RP11–71N21 | chr10:51,942,608–51,942,682 | 144 | 10q11.23 | 10q duplication |
ZWINT | chr10:57,789,521–57,789,580 | 120 | 10q21.1 | 10q duplication |
PHYLIP | chr10:60,674,910–60,674,995 | 138 | 10q21.1 | 10q duplication |
SNRPN | chr15:22,764,255–22,764,313 | 111 | 15q11.2 | 15q11 deletion |
UBEA3A | chr15:23,133,602–23,133,661 | 129 | 15q11.2 | 15q11 deletion |
UBE3A | chr15:23,171,946–23,171,999 | 96 | 15q11.2 | 15q11 deletion |
HIRA | chr22:17,698,971–17,699,021 | 93 | 22q11.21 | 22q11 deletion |