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Table. 3.

Table. 3.

Clinical features and molecular mechanisms in PWS and AS patients

Case number Sex Age at diagnosis (month) Birth weight (kg) MS-PCR MS-MLPA Clinical features
1 F 13 3.4 PWS Deletion (Type II) Neonatal hypotonia
2 M 2 2.6 PWS Deletion (Type II) Neonatal hypotonia
3 M 2 3.1 PWS Deletion (Type II) Neonatal hypotonia
4 M 40 2.4 PWS Deletion (Type I) Developmental delay
5 F 6 3.0 PWS Deletion (Type II) Developmental delay
6 F 1 2.8 PWS Deletion (Type II) Altered mentality
7 F 1 2.6 PWS Deletion (Type II) Neonatal hypotonia
8 F 25 3.3 PWS UPD/ID Developmental delay
9 M 35 1.9 PWS UPD/ID Developmental delay
10 M 87 2.0 PWS Deletion (Type II) Waddling gait
11 F 4 2.9 PWS Deletion (Type I) Developmental delay
12 M 1 3.1 PWS UPD/ID Neonatal hypotonia
13 M 3 2.2 PWS UPD/ID Neonatal hypotonia
14 M 6 2.7 PWS Deletion (Type II) Neonatal hypotonia
15 M 11 2.8 PWS UPD/ID Neonatal hypotonia
16 M 1 2.5 PWS Deletion (Type II) Poor sucking
17 F 1 2.8 PWS Deletion (Type I) Poor sucking
18 M 123 2.2 PWS UPD/ID Developmental delay
19 M 4 2.8 PWS Deletion (Type II) Neonatal hypotonia
20 F 5 3.2 PWS UPD/ID Neonatal hypotonia
21 F 2 2.6 PWS Deletion (Type I) Developmental delay
22 M 187 2.2 PWS UPD/ID Developmental delay
23 M 1 2.9 PWS Deletion (Type I) Neonatal hypotonia
24 F 5 2.3 PWS UPD/ID Developmental delay
25 M 4 3.1 PWS UPD/ID Fever
26 F 1 2.6 PWS Deletion (Type II) Neonatal hypotonia
27 M 1 2.6 PWS Deletion (Type I) Neonatal hypotonia
28 M 26 2.3 PWS UPD/ID Developmental delay
29 F 114 2.2 PWS UPD/ID Obesity
30 M 144 2.8 PWS Deletion (Type II) Obesity
31 M 50 0.7 PWS UPD/ID Failure to thrive
32 F 4 2.8 PWS Deletion (Type II) Developmental delay
33 M 2 2.4 PWS Deletion (Type II) Neonatal hypotonia
34 F 5 1.5 PWS UPD/ID Developmental delay
35 M 2 3.0 PWS UPD/ID Neonatal hypotonia
36 M 2 2.2 PWS Deletion (Type II) Neonatal hypotonia
37 F 1 2.7 PWS Deletion (Type I) Neonatal hypotonia
38 F 10 3.2 PWS Deletion (Type II) Developmental delay
39 M 150 3.6 PWS Deletion (Atypical) Lymphadenopathy
40 F 3 1.9 PWS UPD/ID Neonatal hypotonia
41 M 1 2.4 PWS Deletion (Type I) Neonatal hypotonia
42 F 5 2.6 PWS UPD/ID Neonatal hypotonia
43 F 155 2.3 PWS UPD/ID Headache
44 F 7 2.6 PWS UPD/ID Developmental delay
45 M 2 2.8 PWS Deletion (Type II) Neonatal hypotonia
46 M 21 3.4 AS Deletion (Type II) Developmental delay
47 M 79 3.0 AS Deletion (Type I) Developmental delay
48 F 36 N/A AS UPD/ID Developmental delay
49 F 56 2.5 AS Deletion (Type I) Developmental delay
50 M 14 2.9 AS Deletion (Type I) Developmental delay
51 F 34 N/A AS UPD/ID Developmental delay
52 M 63 2.7 AS UPD/ID Seizures
53 F 25 2.4 AS Deletion (Type I) Developmental delay
54 F 12 3.0 AS Deletion (Type I) Developmental delay
55 F 16 N/A AS Deletion (Type I) Developmental delay
56 F 11 2.6 AS Deletion (Type II) Developmental delay
57 F 17 2.6 AS Deletion (Type II) Developmental delay
58 F 9 2.5 AS Deletion (Type II) Torticollis
59 F 17 2.6 AS Deletion (Type II) Developmental delay
60 F 13 4.0 AS Deletion (Type II) Developmental delay
61 F 29 2.3 AS Deletion (Type II) Developmental delay
62 F 19 3.2 AS Deletion (Type I) Developmental delay
63 F 19 3.1 AS Deletion (Type II) Developmental delay
64 M 95 3.7 AS UPD/ID Developmental delay
65 F 31 3.3 AS UPD/ID Developmental delay
66 M 38 3.0 AS IC deletion Developmental delay
67 M 76 4.6 AS UPD/ID Developmental delay
68 M 55 3.2 AS UPD/ID Developmental delay
69 M 24 N/A AS Deletion (Type II) Developmental delay

Abbreviations: AS, Angelman syndrome; F, female; IC, imprinting center; ID, imprinting defect; M, male; MS-MLPA, methylation-specific multiplex ligation-dependent probe amplification; MS-PCR, methylation-specific PCR; N/A, not available; PWS, Prader–Willi syndrome; UPD, uniparental disomy.

Ann Lab Med 2022;42:79~88

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