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Table 1 Demographics and major clinical features

From: Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China

Case No. Clinical Diagnosis Sex Age Molecular Cytogenetic Test Results Major Clinical Features
1 PWS Female 6 h a del(15)(q?11q?13)pat Prenatal hypotonia, low prenatal weight and below-average height
2 PWS Male 10 h del(15)(q11.2q13.1)pat Hypotonia in neonate, hypoxic ischemic encephalopathy
3 PWS Male 11 h a del(15)(q?11q?13)pat Poor suck, less spontaneous arousal, and weak cry
4 PWS Male 12 h a del(15)(q?11q?13)pat Poor suck, weak cry, and typical facial features
5 PWS Male 12 h a del(15)(q?11q?13)pat Prenatal hypotonia, atypical fetal position during delivery
6 PWS Female 13 h a del(15)(q?11q?13)pat Poor suck, less spontaneous arousal, and weak cry
7 PWS Female 14 h isoUPD(15)mat Hypotonia in neonate, hypoxic ischemic encephalopathy, and typical facial features
8 PWS Female 15 h a del(15)(q?11q?13)pat Prenatal hypotonia, low prenatal weight and below-average height
9 PWS Male 16 h del(15)(q11.2q13.1)pat Prenatal hypotonia, atypical fetal position during delivery
10 PWS Male 1 day a del(15)(q?11q?13)pat Hypotonia in neonate, hypoxic ischemic encephalopathy, and typical facial features
11 PWS Male 1 day a del(15)(q?11q?13)pat Poor suck, weak cry, and typical facial features
12 PWS Male 1 day isoUPD(15)mat Prenatal hypotonia, low prenatal weight and below-average height
13 PWS Male 2 days del(15)(q11.2q13.1)pat Poor suck, weak cry, and typical facial features
14 PWS Male 3 days del(15)(q11.2q13.1)pat Poor suck, less spontaneous arousal, and weak cry
15 PWS Male 4 days del(15)(q11.2q13.1)pat Lethargy and poor suck
16 PWS Male 5 days a del(15)(q?11q?13)pat Hypotonia in neonate and hypoxic ischemic encephalopathy
17 PWS Male 6 days a del(15)(q?11q?13)pat Poor suck, weak cry, and typical facial features
18 PWS Male 7 days a del(15)(q?11q?13)pat Poor suck, less spontaneous arousal, weak cry, and typical facial features
19 PWS Female 7 days segmental iso/heteroUPD(15)mat Lethargy and poor suck
20 PWS Female 10 days a del(15)(q?11q?13)pat Poor suck, less spontaneous arousal, and weak cry
21 PWS Male 10 days a del(15)(q?11q?13)pat Lethargy and poor suck
22 PWS Female 11 days a del(15)(q?11q?13)pat Lethargy, poor suck, and typical facial features
23 PWS Female 16 days isoUPD(15)mat Thyroid axis dysfunction, poor suck, and weak cry
24 PWS Female 17 days a del(15)(q?11q?13)pat Hypotonia in neonate, hypoxic ischemic encephalopathy
25 PWS Male 20 days del(15)(q11.2q13.1)pat Lethargy and poor suck
26 PWS Male 24 days isoUPD(15)mat Poor suck, less spontaneous arousal, and weak cry
27 PWS Male 24 days a del(15)(q?11q?13)pat Lethargy and poor suck
28 PWS Male 25 days del(15)(q11.2q13.1)pat Lethargy, poor suck, and typical facial features
29 PWS Male 1 month a del(15)(q?11q?13)pat Hypotonia in neonate and respiratory impairment
30 PWS Male 1 month a del(15)(q?11q?13)pat Lethargy, poor suck, and typical facial features
31 PWS Female 1 month isoUPD(15)mat Thyroid axis dysfunction and typical facial features
32 PWS Female 2 months a del(15)(q?11q?13)pat Delayed motor development and typical facial features
33 PWS Male 3 months a del(15)(q?11q?13)pat Delayed motor development and lethargy
34 PWS Female 1 year a del(15)(q?11q?13)pat Delayed motor development and lethargy
35 PWS Female 4 years a del(15)(q?11q?13)pat Obesity, severe intellectual disability, typical facial features
36 PWS Male 6 years a del(15)(q?11q?13)pat Obesity, mental and developmental retardation, short stature, hypogonadism, typical facial features
37 AS Female 12 h del(15)(q11.2q13.1)mat Hypotonia, sucking and swallowing diffculties
38 AS Male 15 days del(15)(q11.2q13.1)mat Hypotonia, sucking and swallowing diffculties
39 AS Male 15 days isoUPD(15)pat Hypotonia, sucking and swallowing diffculties
40 AS Male 27 days del(15)(q11.2q13.1)mat Seizures, delayed psychomotor development
41 AS Female 1 year a del(15)(q?11q?13)mat Seizures, happy disposition, speech defect, intellectual disability
42 AS Female 1 year del(15)(q11.2q13.1)mat Seizures, happy disposition, speech defect, intellectual disability
43 AS Male 1 year a del(15)(q?11q?13)mat Seizures, happy disposition, speech defect, severe intellectual disability
44 AS Male 2 years del(15)(q11.2q13.1)mat Seizures, happy disposition, speech defect, intellectual disability
45 AS Male 2 years a del(15)(q?11q?13)mat Seizures, happy disposition, speech defect, intellectual disability, characteristic EEG pattern
46 AS Male 2 years del(15)(q11.2q13.1)mat Seizures, happy disposition, speech defect, intellectual disability, characteristic EEG pattern
47 AS Male 2 years UBE3A mutation Seizures, happy disposition, speech defect, intellectual disability, characteristic EEG pattern
48 AS Male 2.9 years del(15)(q11.2q13.1)mat Seizures, happy disposition, speech defect, intellectual disability
49 AS Male 2.4 years a del(15)(q?11q?13)mat Seizures, happy disposition, speech defect, intellectual disability, characteristic EEG pattern
50 AS Female 4 years del(15)(q11.2q13.1)mat Seizures, happy disposition, speech defect, intellectual disability, characteristic EEG pattern
  1. The “a"indicated that the accurate deletion region on the chromosome was uncertain because of limited numbers of the microsatellite loci
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Molecular Cytogenetics

ISSN: 1755-8166