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Table 2 The pattern of underlying genetic mechanisms in our cohort

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

Total patients (50)

Microdeletion

UPD

IC defect

UBE3A

Unknown

PWS patients (36)

30

6

0

–

0

Percentage

83.3%

16.7%

0%

–

0%

AS patients (14)

12

1

0

1

0

Percentage

85.7%

7.1%

0%

7.1%

0%

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Molecular Cytogenetics

ISSN: 1755-8166