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Table 2 Clinical findings, MLPA and Affymetrix SNP array 6.0 results in 24 patients underwent array assay

From: Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation

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          
  1. + = positive, / = negative