Patient ID | MLPA | Affymetrix human SNP 6.0 Array | Clinical findings | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
 |  | Gain/loss | Chromo-some band | Start (Mb) | End (Mb) | Size (Mb) | Number of genes | Gender | Age | Seizure | Autistic feature | Dysmorphism or other congenital abnormalities | Micro- cephaly | Low birth weight | Growth delay | Family history |
1472 | 1pter- | loss | 1p36.33-p36.32 | 0.83 | 3.12 | 2.29 | 74 | F | 7 y 10 m | / | / | hirsutism, hypertelorims, clinodactyly | / | + | / | / |
1115 | 4pter- | loss | 4p16.3-p16.1 | 0.057 | 9.83 | 9.77 | 138 | M | 6 m | / | / | Greek warrior helmet appearance of the nose, cleft lip/palate, polymicrogyria, thin corpus callosum | + | + | / | / |
1483 | 4pter- | loss | 4p16.3-p16.2 | 0.057 | 3.38 | 3.32 | 58 | F | 9 m | / | / | Greek warrior helmet appearance of the nose, micrognathia, high-arched palate, dermatoglyphic anomalies | + | + | + | / |
1834 | 4pter- | loss | 4p16.3-p16.1 | 0.057 | 9.82 | 9.77 | 138 | F | 1 y 3 m | + | / | Greek warrior helmet appearance of the nose, micrognathia, prominent ear, cleft palate, calcification of kidneys, hepatic hemangioma, CHD, dysplasia of atlas | + | + | + | / |
1980 | 4pter- | loss | 4p16.3-p16.2 | 0.056 | 4.12 | 4.07 | 67 | F | 1 y 2 m | + | / | Greek warrior helmet appearance of the nose, high-arched palate, prominent ear | + | + | + | + |
1971 | 7qter- | loss | 7q36.3 | 157.29 | 158.82 | 1.53 | 7 | F | 2 y 1 m | / | / | low hair line, hypertelorism, ptosis, prominent ears, hand anomalies | + | / | / | / |
339 | 8pter- | loss | 8p23.3 | 0.021 | 2.067 | 2.05 | 28 | F | 1 y | / | / | hypertelorism, long philtrum, malformed ears | + | / | / | / |
1467 | 9pter- | loss | 9p24.3 | 0.67 | 1.54 | 0.87 | 5 | F | 2 y 11 m | / | / | / | + | / | / | / |
2268 | 9pter- | loss | 9p24.3-24.1 | 0.19 | 7.01 | 6.82 | 48 | M | 3 y | / | / | flat nasal bridge, prominent ears, dermatoglyphic anomalies | / | / | / | / |
419 | 11qter- | loss | 11q25 | 130.33 | 134.45 | 4.12 | 20 | M | 7 m | / | / | long philtrum, low set ears, micrognathia, thin upper lip, V-shaped mouth | / | + | / | / |
1591 | 11qter - | loss | 11q23.3-q25 | 119.98 | 132.81 | 12.82 | 143 | F | 2 y 5 m | / | / | light hair color, Hypertelorism, high-arched palate, dermatoglyphic anomalies, CHD | / | / | / | / |
1309 | 15qter- | loss | 15q26.2-q26.3 | 92.79 | 100.29 | 7.50 | 48 | M | 11 m | / | / | flat nasal bridge, small palpebral fissure, hypertelorism, dermatoglyphic anomalies, clinodactyly, inguinal hernia, polycytic kidney | / | + | / | + |
2689 | 16pter- | loss | 16p13.3 | 0.00077 | 1.28 | 1.28 | 69 | F | 6 y | / | / | high-arched palate, hypertelorism, prominent ears, thin corpus callosum | / | / | / | / |
2498 | 22qter- | loss | 22q13.32-13.33 | 47.43 | 49.41 | 1.97 | 41 | F | 3 y | / | / | / | / | + | / | / |
1038 | 3qter+ | gain | 3q29 | 194.37 | 199.38 | 5.01 | 67 | M | 5 y 10 m | + | / | hirsutism, prominent ears, dermatoglyphic anomalies, CHD, cryptorchidism | + | / | / | / |
1518 | 3qter+ | / | / | / | / | / | / | M | 5 y 11 m | + | + | hirsutism, prominent ears, sparse teeth | / | / | / | / |
1729 | 22qter+ | gain | 22q13.33 | 49.32 | 49.58 | 0.26 | 7 | F | 7 m | / | / | flat nasal bridge, small palpebral fissure, prominent ears, dermatoglyphic anomalies, CHD | + | / | + | / |
1704 | 14qter- | loss | 14q32.33 | 104.53 | 105.21 | 0.68 | 24 | M | 4 y 6 m | + | / | / | / | / | / | / |
 | 17qter- | / | / | / | / | / | / |  |  |  |  |  |  |  |  |  |
390 | 13pter- | / | / | / | / | / | / | M | 1 y | / | / | thin corpus callosum | + | / | / | / |
 | 22qter- | loss | 22q13.31-q13.33 | 46.90 | 49.58 | 2.68 | 46 |  |  |  |  |  |  |  |  |  |
337 | 2pter- | loss | 2p25.3 | 0.0028 | 2.02 | 2.01 | 19 | F | 8 m | / | / | hypertelorism, flat nasal bridge | / | / | / | / |
 | 4pter+ | gain | 4p16.3 | 0.15 | 1.19 | 1.04 | 24 |  |  |  |  |  |  |  |  |  |
1947 | 10pter- | loss | 10p15.3-15.1 | 0.062 | 6.22 | 6.16 | 48 | M | 9 m | / | / | hypertelorism, flat nasal bridge, micrognathia, CHD | + | / | / | + |
 | 6qter+ | gain | 6q27 | 165.60 | 166.43 | 0.82 | 6 |  |  |  |  |  |  |  |  |  |
1711 | 8pter- | loss | 8p23.3 | 0.16 | 1.91 | 1.75 | 17 | M | 4 y 10 m | / | / | long philtrum | + | / | / | / |
 | 7pter+ | gain | 7p22.3 | 0.26 | 1.81 | 1.55 | 28 |  |  |  |  |  |  |  |  |  |
2126 | 6pter- | loss | 6p25.3 | 0.33 | 2.95 | 2.63 | 20 | M | 3 y 3 m | / | / | thin corpus callosum | / | / | / | + |
 | 8pter+ | gain | 8p23.3 | 0.021 | 0.58 | 0.56 | 7 |  |  |  |  |  |  |  |  |  |
2026 | 7pter- | loss | 7p22.3 | 0.26 | 2.01 | 1.76 | 23 | F | 1 y 7 m | / | / | ptosis, long philtrum, downturned corners of the mouth | / | / | / | / |
 | 12pter+ | gain | 12p13.33-13.2 | 0.021 | 11.07 | 11.05 | 202 |  |  |  |  |  |  |  |  |  |