| ID |
Sex |
Test indication |
Sample type |
aCGH result (hg 19) |
detectable on EasyChip |
Mb |
genes |
role |
References |
morphol. US |
US 30th GW |
F.U. at born |
| 7 |
M |
mos 47,XY,+mar[9]/46,XY[7] .ish (CEPX++) |
chorionic villi colture |
Xp11.1q13.1(56,556,892-67,950,691)x2 dn |
YES |
11,4 |
>10 RefSeq, 4 OMIM MORBID |
Pathological |
|
Therapeutic termination of pregnancy |
| 10 |
M |
47,XY,+mar (mosaicism 60%) |
chorionic villi colture |
18p11.32p11.21(14,346-14,115,025)x2~3 dn |
YES |
14.1 |
>10 RefSeq, 6 OMIM MORBID |
Pathological |
|
Therapeutic termination of pregnancy |
| 12 |
M |
47,XY+mar (mosaicism 30%) |
chorionic villi colture |
22q11.1q11.21(14,797,037-20,138,979)x2~3 dn |
YES |
5,3 |
>10 RefSeq, >10 OMIM MORBID |
Pathological |
Cat Eye Syndrome (OMIM # 607576), 22q11.2 Duplication syndrome #608363 ) |
Therapeutic termination of pregnancy |
| 21 |
M |
46,XY,inv(20)(p13q13.3)dn |
amniocytes colture |
Xq21.33q22.1(96,603,211-102,495,361)x2 mat |
YES |
5,9 |
>10 RefSeq, 7 OMIM MORBID |
Pathological |
Cheng et al 2005; Cremers et al 1987 |
spontaneous abortion |
| 51 |
F |
growth delay, single umbilical artery, hypoplastic left heart suspect, diaphragmatic hernia, club foot suspect |
chorionic villi colture |
15q26.2q26.3(96,853,120-102,465,326)x1 dn |
YES |
5,6 |
27 RefSeq, 8 OMIM |
pathological |
You 2005; Klaassens 2005 |
|
| 68 |
F |
46,X,der(X)dn |
chorionic villi colture |
Xp22.3p21.1(61,115-33,465,266)x1 dn |
YES |
33,4 |
>10 RefSeq, >10 OMIM MORBID |
pathological |
|
Therapeutic termination of pregnancy |
| Xq26.3q28(134,909,242-155,257,104)x3 dn |
YES |
20,2 |
>10 RefSeq, >10 OMIM MORBID |
pathological |
|
| 69 |
F |
46,XX,der(2).ish der(2)(2qter-)dn |
chorionic villi |
2q37.3(241,560,272-242,968,420)x1 dn |
YES |
1,4 |
>10 RefSeq, 4 OMIM MORBID (KIF1A,AGXT,D2HGDH,PDCD1) |
pathological |
|
Therapeutic termination of pregnancy |
| 16p13.3p13.11(72,798-15,577,010)x3 dn |
YES |
15,5 |
>10 RefSeq, >10 OMIM MORBID |
pathological |
|
| 75 |
F |
47,XX,+mar dn Single umbilical artery, Echogenic intracardiac focus |
amniocytes colture |
18p11.32p11.21(14,346- 15,380,657)x4 dn |
YES |
15,4 |
>10 RefSeq, >10 OMIM MORBID |
pathological |
Tetrasomy 18p (OMIM#614290) |
Therapeutic termination of pregnancy |
| 79 |
F |
normal cardiac fetal activity but with absence of fetal movements. Bladder agenesis |
chorionic villi colture |
4q28.3(134,923,047-135,180,140)x1 pat |
NO |
0,257 |
1 RefSeq |
unknown |
|
|
| 8q22.2(99,880,457-100,312,677)x3 mat |
NO |
0,432 |
1 RefSeq, 1 OMIM MORBID (VPS13B) |
unknown |
|
|
| 22q11.1q11.23(16,054,713-23,654,193)x1~2 dn |
YES |
7,6 |
> 10 RefSeq, >10 OMIM MORBID |
pathological |
DiGeorge Syndrome (OMIM # 188400) |
|
| 90 |
M |
47,XY,+mar dn |
chorionic villi colture |
18p11.32p11.21(14,346- 15,380,657)x4 dn |
YES |
15,3 |
>10 RefSeq, >10 OMIM MORBID |
pathological |
Tetrasomy 18p (OMIM#614290) |
|
| 113 |
M |
IUGR |
amniocytes colture |
21q22.2q22.3(41,683,959-47,508,175)x3 mat |
YES |
5,8 |
> 10 RefSeq, >10 OMIM MORBID |
unknown |
|
short limbs |
short limbs |
SHOX deletion phenotype |
| Xp22.33(61,115-1,611,364)x1 dn |
YES |
1,2 |
> 10 RefSeq, 2 OMIM MORBID (SHOX, CSF2RY) |
pathological |
Leri-Weill dyschondrosteosis (OMIM ##127300) |
| 130 |
F |
ultrasound anomalies (note: trisomy 10 mosaicism confined to the placenta) |
chorionic villi |
10p15.3-10q26.3(116,477-135,506,704)x2~3 dn |
YES |
135,4 |
>10 RefSeq, >10 OMIM MORBID |
pathological |
Mosaic trisomy 10 |
Therapeutic termination of pregnancy |
| 147 |
F |
46,XY,der(7)dnSaethre-Chotzen syndrome+ hydrocephalus |
amniocytes colture |
3q25.1q25.31(152,450,190-155,106,521)x1 pat |
NO |
2,3 |
8 RefSeq, 1 OMIM MORBID (MME) |
unknown |
|
|
|
|
| 7p21.3p15.3(7,854,662-21,325,587)x1 dn |
YES |
13,5 |
>10 RefSeq, 3 OMIM MORBID (GLCCI1, ISPD, TWIST1) |
pathological |
Sifakis et al, 2012 |
IUGR |
Therapeutic termination of pregnancy |
| 166 |
F |
mos 45,X/46,X,der(X)/46,XX |
amniocytes colture |
12p13.33p11.1(163,618-34,756,180)x2~3 dn |
YES |
34,6 |
>10 RefSeq, >10 OMIM MORBID |
pathological |
|
Therapeutic termination of pregnancy |
| Xq21.1q28(82,400,679-155,232,885)x1~2 dn |
YES |
72,8 |
>10 RefSeq, >10 OMIM MORBID |
pathological |
| 8q13.2(69,482,639-70,492,700)x1 |
NO |
1 |
2 RefSeq (C8orf34, LOC100505718, SULF1) |
unknown |
| 239 |
M |
46,XY/47,XY,+mar dn |
chorionic villi |
2p11.2q11.2(86,336,170-97,678,220)x2~3 dn |
YES |
11,3 |
> 10 RefSeq, 7 OMIM MORBID |
pathological |
|
|
| 240 |
M |
46,XY/46,XY,der(7) |
chorionic villi |
7q34q36.3(139, 545,935-159,118,537)x1~2 dn |
YES |
19,6 |
> 10 RefSeq, >10 OMIM MORBID |
pathological |
|
Therapeutic termination of pregnancy |
| 17q24.3q25.3(68,264,322-81,044,524)x2~3 dn |
YES |
12,8 |
> 10 RefSeq, >10 OMIM MORBID |
pathological |
|
| 241 |
F |
46,XY,der(18)dn |
amniocytes colture |
4p16.3p15.1(56,802-34,053,664)x3 dn |
YES |
34 |
> 10 RefSeq, >10 OMIM MORBID |
pathological |
|
Therapeutic termination of pregnancy |
| 18p11.32(14,346-7,157,933)x1 dn |
YES |
7,1 |
> 10 RefSeq, >10 OMIM MORBID |
pathological |
|
| 2p15(63,546,581-63,718,034)x1 |
NO |
0,172 |
1 RefSeq (WDPCP) |
unknown |
|
| 252 |
F |
47,XX,der(21),+mar[12]/46,XX,der(21)[11] |
chorionic villi colture |
21p11.2q22.2(10,864,216-41,104,250)x2~3 dn |
YES |
30,2 |
> 10 RefSeq, >10 OMIM MORBID |
pathological |
|
|
| 21q22.2q22.3(41,127,051-48,090,288)x1~2 dn |
YES |
7 |
> 10 RefSeq, >10 OMIM MORBID |
pathological |
|
|
| 273 |
M |
cystic hygroma |
chorionic villi colture |
17q21.31(43,585,247-44,289,232)x1 dn |
YES |
0,704 |
9 RefSeq (MAPT) |
pathological |
Koolen-De Vries syndrome (OMIM #610443) |
|
| Xp22.2(11,692,320-12,160,711)x2 mat |
NO |
0,468 |
1 RefSeq (MSL3) |
unknown |
|
|
| 88 |
M |
maternal anxiety |
chorionic villi colture |
22q11.21(18,894,865-21,561,492)x1 dn |
YES |
2,7 |
> 10 RefSeq, >10 OMIM MORBID |
pathological |
DiGeorge Syndrome (OMIM # 188400) |
|
| 261 |
M |
maternal anxiety |
amniocytes colture |
8p23.1p22(7,169,520-12,503,654)x3 mat |
YES |
5,3 |
> 10 RefSeq, 4 OMIM MORBID (MFHAS1, RP1L1, BLK, GATA4) |
pathological |
Barber Jc et al, 2013 |
|
|
