Table 1 Eight cases found with copy number variants involving 17p13.3 by SNP array
Case no | GW/age | Specimen source | Clinical findings | Karyotype | SNP array (GRCh37) | Dup/del | Size (Mb) | No. of protein-coding genes | Relevant genes or syndromea | Origin | Classification of variation | Clinical outcome |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | GW 19+ | AF | Pregnant woman manifested with intellectual disability; Slightly rapid heart rate | 46,XY | 17p13.3p13.2(525_3580971) × 3 | Dup | 3.5 | 63 | 17p13.3 duplication syndrome | NT | P | TOP |
2 | GW 13 | AF | Increased nuchal translucency (3.7 mm) | 46,XY | 17p13.3(1234403_1810127) × 3 | Dup | 0.576 | 15 | YWHAE, CRK | Maternal | VOUS | Normal |
3 | GW 26+ | CD | Ventricular septal defect, dysplasia of the corpus callosum | 46,XY, r(17)(p13q25) | 17p13.3p13.2(525_5768789) × 1, 17p13.2q25.3(5768958_80004050) × 3 ~ 4, 17q25.3(80008255_81041823) × 1 | Del Mosaic Dup Del | 5.7 74.2 1.0 | 116 1007 24 | MDS, Charcot-Marie-Tooth disease, type 1A (MIM:118220), Potocki–Lupski syndrome (MIM:610883), 17q11.2 duplication syndrome, 1.4-Mb (618874), and 17q12 duplication syndrome (MIM:614526) | NT | P P VOUS | TOP |
4 | GW 19+ | AF | NIPT indicated a 4.2 Mb deletion in the 17p13.313.2 and a 9.58 Mb deletion in the 17p12p11.2 | 46,XX | 17p13.3p13.2(525_4669796) × 1 | Del | 4.6 | 84 | MDS | NT | P | TOP |
5 | GW 28 | AF | IUGR, shallow cerebral cortex, small thymus, low conus spinalis, overlapping fingers and polyhydramnios | 46,XX | 17p13.3(525_2158383) × 1 | Del | 2.1 | 33 | YWHAE, CRK | De novo | P | TOP |
6 | GW 9+ | Villus | Spontaneous abortion | NT | 17p13.3p13.2(525_4931704) × 1 | Del | 4.9 | 101 | MDS | NT | P | NA |
7 | 4 years old | PB | Developmental delay, congenital lissencephaly, softening of the brain | NT | 17p13.3(525_2603970) × 1 | Del | 2.6 | 40 | MDS | NT | P | NA |
8 | 8 years old | PB | Intellectual disability, began walking at the age of 5 | NT | 17p13.3(525_1610537) × 1, 17q25.3(77008871_81041823) × 3 | Del Dup | 1.6 4.0 | 23 82 | YWHAE, CRK; P4HB, ACTG1, BAIAP2, TBCD | NT | P P | NA |