1 |
M-4 |
DD, hypotonia, short stature, microcephaly, micrognathia, small mouth, proximally placed thumb, fifth finger clinodactyly, broad forehead, strabismus, uplanting palpebral fissures, scoliosis |
46,XY |
1721.32q21.33 (47,346,528–48,900,875)×3 |
1554 |
2 |
M-6 |
DD, epilepsy, uncal dysplasia |
46,XY |
Xp11.23 (48,888,996–49,401,262)×2Xq21.31q21.32 (91,579,532–92,176,985)×2 |
512 |
3 |
M-1 |
DD, IUGR, short stature failure to thrive, microcephaly, round face, low-set ears, epicanthus, hypotonia, cat-like cry |
46,XY |
5p15.33p15.2 (113,576–14,739,104)×1 |
14,625 |
4 |
M-6 |
DD, VSD, curly eyelashes, thin upper lip, prominent methopic suture, synophrys, triangular face, large ears, epilepsy |
46,XY |
8q24.21q24.3 (130,459,411–140,444,375)×1 |
9985 |
5 |
F-5 |
DD, epilepsy |
46.XX.der(8)t(8,9)(p23.1; p23) |
8p24.3p23.1 (158,048–10,161,482)×19p24.3p23 (203,861–13,947,653)×2 |
10,00313,744 |
6 |
F-3 |
DD, short stature, failure to thrive, hypotonia, large ears, depressed nasal bridge, thin upper lip, epilepsy |
46,XX |
2q12.2q12.3 (106,925,594–188,257,773)×3 |
50,379 |
7 |
F-3 |
DD, bifid thumb, microcephaly, strabismus, broad nasal tip, depressed nasal bridge, telecanthus, short neck, low-set ears, epilepsy |
46,XX,dup(4)(q28.2q35.1 |
4q28.2q35.1 (137,877,879–188,257,773)×3 |
50,379 |
8 |
F-1 |
DD, microcephaly, short stature, IUGR, prominent glabella, short philtrum, strasbismus, hypertelorism, epicanthus, epilepsy |
46,XX |
4p16.3 (68,345–1,881,435)×1 |
1800 |
9 |
F-4 |
DD, short stature, micrognathia, low-set ears, hyperterlorism, short philtrum, hypocalcemia |
46,XX |
23q11.21 (18,894,820–20,311,733)×1 |
1416 |
10 |
M-1 |
DD, microcephaly, hypertonicity, epilepsy |
46,XY,der(3)(p25;q25)pat |
3p26.3p26.1 (61,891–5,528,884)×13q25.32q29 (156,235,115–197,851,986)×3 |
546741,617 |
11 |
F-1 |
DD, hypotonia, iris coloboma |
46,XX |
15q13.1q13.3 (29,013,163–32,915,723)×1 |
3900 |
12 |
F-4 |
DD, epilepsy, ataxia, broad nasal tip |
46,XX |
6q21q23.31 (114,502,807–121,158,975)×1 |
6656 |
13 |
F-1 |
DD, hypotonia, brachycephaly, long eyelashes, small philtrum, telecanthus, pectus excavatum |
46,XX |
Xp22.2 (11,279,310–12,016,067)×4 |
737 |
14 |
M-10 |
DD, epilepsy |
46,XY |
9q13q21.11 (68,240,211–70,984,588)×1 |
2744 |
15 |
M-3 |
DD, sensorineural hearing loss, ptosis, microcephaly |
46,XY |
9p24.3 (204,193–500,584)×3 |
296 |
16 |
F-10 |
DD, ASD, microcephaly, hypertonicity, self mutilation, optic atrophy, EEG abnormality |
46,XX |
16p12.2 (21,601,714–21,816,543)×1 |
215 |
17 |
F-8 |
DD, epilepsy, hypertonicity, hydrocephaly, obesity, short stature |
46,XX |
3p12 (44,626,845–45,983,652)×1 |
1357 |
18 |
F-10 |
DD, webbed neck, epilepsy, tall stature |
46,X,der(X) |
Xp22.2p21.3 (14,036,105026,666,672)×3 |
126 |
19 |
M-6 |
DD, ADHD, VSD, epilepsy, hypotonia, microcephaly |
46,XY |
Yp11.32q11.223 (118,546–25,415,912)×2 |
25,287 |
20 |
F-7 |
DD, pachygyria, lissencephaly, microcephaly, hypertonicity, epilepsy |
46,XX |
8q24.23 (137,278,410–138,539,014)×3 |
1261 |
21 |
M-4 |
DD, microcephaly, epilepsy, hypertonicity, macrodontia, optic atrophy, limb contractures |
46,XY |
16p13.11p12.3 (16,295,900–16,873,547)×1 |
578 |
22 |
F-3 |
DD, microcephaly |
46,XX |
14q32.33 (106,505,480–107,285,437)×1 |
780 |
23 |
F-2 |
DD, ASD, microcephaly, epilepsy, cone dystrophy |
46,XX |
8p1.21p11.1 (42,908,376–43,822,214)×3 |
914 |
24 |
F-1 |
DD, microcephaly, short stature, failure to thrive, prominent metopic suture, synophrys, asymetric head shape, triangular and asymetric face, telecanthus, epicanthal folds, down-slanting palpebral fissures, microphthalmia of the left eye, anteverted nares, smooth and tented philtrum, microretrognathia, low-set ears, auricular pits, high-arched palate, thin upper lip and hypotonia |
46,XX,der(16)(q24) |
16q121q23.5 (52,459,169–82,285,105)×3 |
29,800 |
25 |
F-2 |
DD, microcephaly, short stature, low-set ears, convex nasal ridge |
46,XX |
3p14.2 (60,681,991–61,207,077)×1 |
520 |
26 |
F-14 |
ID, obesity, behavioral problems |
46,XX |
8p21.3 (21,157,621–22,987,837)×3 |
1800 |
27 |
M-12 |
ID, impaired social interactions |
46,XY |
15q13.3 (31,999,631–32,914,239)×3 |
446 |
28 |
M-3 |
DD, epilepsy |
46,XY |
16p13.1 (14,866,283–16,391,910)×1 |
1500 |
29 |
F-7 |
ID, ASD, short stature, hand stereotypies |
46,XX |
14q32.2q32.33 (97,377,993–107,282,437)×3 |
9904 |
30 |
F-4 |
DD, epilepsy |
46,XX |
20p13 (2,911,855–4,931,592)×3 |
2020 |
31 |
M-14 |
ID, IUGR, hypotonia, microcephaly, short stature, low-set ears, small mouth, prominent forehead, hypertelorism |
46,XY |
19p13.3 (2,572,666–4,192,224)×3 |
1619 |
32 |
M-25 |
ID, diabetes mellitus, renal cysts, obesity, stereotyped movements |
46,XY |
15q11.2q13.1 (23,164,31–28,530,182)×3 |
5365 |
33 |
F-4 |
DD, epilepsy, microcephaly, micrognathia |
46,XX |
4q34.2q34.3 (177,322,096–180,306,130)×3 |
2984 |
34 |
M-14 |
DD, synophrys, thin upper lip, short fingernails |
46,XY,der(10)t(10;13)(p15; p11) |
10p15.3p15.1 (135,608–6,054,675)×1 |
5919 |
35 |
M-12 |
DD/ID, microcephaly, cerebral atrophy, synophrys, flat philtrum, 2-3-4-5 toe syndactyly |
46,XY |
2q31.1q31.3 (170,694,601–182,623,003)×1 |
11,900 |