Table 1 Array-CGH results and clinical features of the 13 Rwandan patients with pathogenic CNVs

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.