|
1
|
6 y
|
F
|
arr [hg19] 18p11.32p11.21 (108,760-14,241,744)x3; 18p11.21q11.2(15,345,079-18,270,513)x3
|
14 Mb
|
de novo
|
DD, moderate ID, facial dysmorphism, hypertelorism, AVSD with ASD, single transverse palmar crease.
|
|
6
|
11 y
|
M
|
arr [hg19] 7q11.23 (72,700,414-74,142,327)x1
|
1442 kb
|
de novo
|
Moderate ID, facial dysmorphism, friendly behaviour, Mitral valve prolapse.
|
|
13
|
6 y
|
M
|
arr [hg19] 6q16.1q21 (93,818,221-108,052,559)x1
|
14 Mb
|
Unknown
|
Absence of speech with severe ID, facial dysmorphism, ear abnormalities, microcephaly, bilateral cryptorchidism and autistic-like behavior and underweighted.
|
|
14
|
15 y
|
M
|
arr [hg19] 22q11.21 (18,706,001-21,464,119)x1
|
2758 kb
|
de novo
|
Mild ID, hypotonia at birth, facial dysmorphism, hypernasal speech, a short stature.
|
|
16
|
6 y
|
M
|
arr [hg19] 1p35.3p31.3 (29,531,861-63,886,221)x3
|
34 Mb
|
de novo
|
Moderate ID, anxiety and hearing impairment. Facial dysmorphism, clinodactyly.
|
|
17
|
9 y
|
M
|
arr [hg19] 8p23.1 (7,145,710-12,450,758)x1
|
5305 kb
|
Unknown
|
ASD, VSD with PS. Discrete facial dysmorphism, a shield shaped chest with supranumerary nipples. Hyperactivity, impulsiveness with moderate ID.
|
|
18
|
4 y
|
F
|
arr [hg19] 7q34q36.2 (141,383,311-154,467,488)x1
|
13 Mb
|
de novo
|
DD, speech impairment and Facial dysmorphism.
|
|
20
|
6 y
|
M
|
arr [hg19] 2q33.1q33.3 (198,383,221-206,943,477)x1
|
8560 kb
|
de novo
|
Severe ID, facial dysmorphism with absence of speech and autistic spectrum behavior.
|
|
34
|
25 months
|
F
|
arr [hg19] 7q11.23 (72,726,572-74,133,332)x3
|
1406 kb
|
Maternally inherited
|
Cor pulmonare associated with a DD and speech delay,facial dysmorphism, genu valgum.
|
|
36
|
14 y
|
F
|
arr [hg19] 8q24.3 (143,631,709-146,274,835)x3,16p13.3(96,766-1,850,720)x1
|
2643 kb and 1754 kb
|
Unknown
|
Severe ID, facial dysmorphism clubfoot, short stature and behavior problems characterized by self-mutilation.
|
|
37
|
6 y
|
M
|
arr [hg19] 22q11.21 (18,706,001-21,464,119)x1
|
2758 kb
|
de novo
|
Speech delay, severe ID, VSD, DD, Facial dysmorphism, ear abnormalities.
|
|
39
|
4 y
|
F
|
arr [hg19] 10p15.3p14 (136,361-11,073,839)x1
|
10 Mb
|
de novo
|
DD, neonatal hypotonia, and absence of speech development. Facial dysmorphism and clinodactyly.
|
|
45
|
2 y
|
M
|
arr [hg19] 17q21.31q21.32(44,156,499-45,152,416)x1
|
995 kb
|
de novo
|
DD, epilepsy, facial dysmorphism consisting of hypertelorism, low set ears, hypotonia and sparse hair.
|
