Table 5 Summary of clinically significant CNVs detected by CMA in fetal RAA without other sonographic anomalies from the reported literature
Study | Country | Subchromosomal abnormalities | Inheritance | Classification | Associated syndrome/OMIM |
|---|---|---|---|---|---|
O'Mahony et al. [21] | Australia | 6p21.31p21.2 (36,098,410–36,831,569) X1 (0.73 Mb) | Mat | LP | – |
Maya et al. [20] | Israel | 10p15.3 (136,391–2,318,402) X 1 (2.18 Mb) | – | P | 10p15.3 microdeletion syndrome |
16p11.2 (29,581,101–30,165,725) X 3 (0.59 Kb) | – | P | 16p11.2 duplication syndrome (OMIM:614671) | ||
22q11.21 (18,844,632–21,703,145) X 1 (2.86 Mb) | – | P | DiGeorge syndrome (OMIM: 611867) | ||
22q11.21 (18,963,600–20,312,668) X 1 (1.35 Mb) | – | P | DiGeorge syndrome (OMIM: 611867) | ||
Vigneswaran et al. [22] | UK | 22q11.2 del (n = 5) | – | P | DiGeorge syndrome (OMIM: 611867) |
16p13dup (n = 1) | – | – | – | ||
Wu et al. [23] | China | 17p11.2 (16,615,982_18,922,171) X 3 | De novo | P | Potocki-Lupski syndrome (OMIM: 610883) |
Topbas Selcuki et al. [5] | Turkey | 22q11.2 del (n = 2) | – | P | DiGeorge syndrome (OMIM: 611867) |
This article | China | 22q11.2 del (n = 4) | – | P | DiGeorge syndrome (OMIM: 611867) |
22q11.21 deletion partially overlapping the pathogenic segment of 22q11.21 deletion syndrome (n = 1) | – | LP | DiGeorge syndrome (OMIM: 611867) |