Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory

Table 2 The Oligo-SNP CMA results obtained from the 268 clinical cases

(a) arr[hg19] 1p36.33p36.21(849,466-15,970,926)x1, 10q26.2q26.3(129,968,527-135,427,143)x3.
(b) arr[hg19] 1q21.1(145,368,364-145,829,474)x1, 2p16.3(50,909,653-50,971,464)x1.
arr[hg19]2q37.1(233,859,442-234,137,615)x3, 3q28q29(191,860,743-92,468,987)x1.
arr[hg19]Xq28(154,120,734-154,565,718)x2 (male).
arr[hg19]1p32.3(55,085,169-55,338,679)x3.
(c) 45,XX,der(14;15)(q10;q10).
(d) One case with segmental UPD 16
[arr[hg19] 16p13.3p12.3(89,560-20,228,889)x 2 hmz,
16q21q23.3(62,222,293-83,741,752)x 2 hmz].
(e) One case with a Xp21.1 deletion, trisomy 16, and mosaic segmental UPD 18.
[ arr[hg19] Xp21.1(31,746,498-31,987,991)x1,(16)x3,(18)x2-3,
18p11.31q12.1(5,218,469-29,237,765)hmz, 18q21.31q23(55,397,870-78,014,582)hmz].
*VOUS – Variant of unknown significance.

ISSN: 1755-8166