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

From: Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies

Patient Age Gender Array result Size Inheritance Clinical features
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.