Table 1 Cases with LCSH (single or sum) ≥10 Mbp restricted to one autosome suggesting a possible UPD
Case | Chromosome | UPD segment (Isodisomy) | Total Size |
|---|---|---|---|
#25 | 1 | 1q25.3q31.3 (15.4 Mbp; 182,537,598-197,949,082) | 15.4 Mbp |
#129 | 1 | 1p31.3p31.1 (15.1 Mbp; 61,620,929-76,755,163) | 15.1 Mbp |
#147 | 2 | 2p12p11.2 (9.9 Mbp; 79,211,952-89,129,064) & 2q11.1q14.3 (33 Mbp; 95,341,387-128,342,675) & 2p24.1p14 (45.9 Mbp; 22,170,065-68,067,589) | 88.8 Mbp |
#169 | 7 | 7q21.13q31.1 (19 Mbp; 90,678,991-109,653,423) | 19 Mbp |
#346 | 7 | 7p14.3p14.1 (10.6 Mbp; 29,374,797-40,699,189) | 10.6 Mbp |
#76 | 10 | 10q25.2q26.13 (12 Mbp; 112,544,654-124,513,498) | 12 Mbp |
#312 | 14 | 14q13.2q23.2 (28.1 Mbp; 36,397,727-64,565,981) | 28.1 Mbp |
#204 | 16 | 16p13.3p13.13 (12.5 Mbp; 89,560-12,548,052) | 12.5 Mbp |
#47 | 17 | 17q22q24.2 (12.3 Mbp; 53,332,043-65,633,600) | 12.3 Mbp |
#209 | 22 | 22q12.1q13.1 (13.5 Mbp; 26,504,838-40,021,614) | 13.5 Mbp |
#443 | 22 | 22q13.1q13.33 (13.2 Mbp; 37,977,281-51,157,531) | 13.2 Mbp |