Mental Retardation
Karyotyping (Constitutional)
| FISH | Molecular genetics | NGS |
|---|---|---|
| Chromosome 21 trisomy | FRAGILE X | NGS Whole Exome Sequencing WES |
| DiGeorge N25 DGCR2 | MICROCEPHALY MLPA Panel | |
| DiGeorge II | ||
| DiGeorge TBX1 / N85A3.3 | ||
| DiGeorge VCFS N25 / N85A3 | ||
| Angelman (UBE3A/D15S10) | ||
| Prader-Willi /Angelman (SNRPN) | ||
| Williams Beuren | ||
| Telomere deletion (Chromosomes 1 to 22 + X & Y) |