Table 1.
Clinical and molecular features of the 2 probands
| Case | Clinical features | Age, Years | Karyotype | CNV | Band | Size | Microarray nomenclature | Genes | Origin | LCR |
||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| classification | start/end | identity | position | size | ||||||||||
| 1 | GDD, FD, FB | 18 | 46,XX | loss | 17q21.31 | 0.56 Mb | 17q21.31 (43648662_44212416)×1 | LOC644172, CRHR1, MGC57346, C17orf69, MAPT-AS1, SPPL2C, MAPT, MAPT-IT1, STH, KANSL1 | de novo | 19A (chr17:44407071) 19B (chr17: 43573201) |
44,407,071–44,424,507 43,573,201–43,593,494 |
98.17% | direct | ~19,000 bp |
| 2 | GDD, FD, FB | 22 | 46,XX | loss | 17q21.31 | 0.51 Mb | 17q21.31 (43703801_44212416)x1 | CRHR1, MGC57346, CRHR1-IT1, MAPT-AS1, SPPL2C, MAPT, MAPTIT1, STH, KANSL1 | de novo | 19C (chr17:44624933) 19D (chr17:43573201) |
44,624,933–44,642,442 43,573,201–43,593,494 |
98.23% | direct | ~19,000 bp |
FB, friendly behavior; FD, facial dysmorphisms; GDD, global developmental delay; LCR, low-copy repeat.