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Table 1 Cases With Mosaic Methylation Pattern of the Prader-Willi/Angelman Syndrome Critical Region, Including Age, Sex, MS-MLPA Results, CMA for Chromosome 15 Results, and Phenotype

From: Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features

Patient

Age (y)

Sex

MS-MLPA

CMA, Chromosome 15

Angelman Syndrome Features

Prader-Willi Syndrome Features

Microcephaly

Speech Delay

Gait Ataxia

Seizures

Happy Disposition

Hypotonia

Growth Failure

Obesity

Hyperphagia

Hypogonadism

1

4

M

Mosaicism for maternal copy

Hmz 15

--

--

Y

N

--

--

--

N

--

--

2

11

F

Mosaicism for maternal copy

Partial hmz 15

--

Y

--

--

--

Y

--

--

--

--

3

3

M

Mosaicism for maternal copy

Normal

Y

Y

Y

Y

N

Y

N

N

N

N

4

6

F

Mosaicism for maternal copy

Normal

N

Y

N

N

Y

Y

N

N

N

N

5

6

F

Mosaicism for maternal copy

Normal

--

--

--

Y

Y

--

--

--

--

--

6

6

M

Mosaicism for maternal copy

Normal

--

Y

--

N

--

--

--

Y

Y

--

7

2

F

Mosaicism for maternal copy

Normal

--

--

--

--

--

--

--

--

--

--

8

8

M

Mosaicism for maternal copy

Normal

--

--

--

--

--

--

--

--

--

--

9

9

M

Mosaicism for maternal copy

Normal

--

--

--

--

--

--

--

--

--

--

10

10

M

Mosaicism for maternal copy

Normal

Y

Y

Y

--

Y

--

--

N

Y

--

  1. Abbreviations: CMA chromosomal microarray, F female, hmz homozygous, M male, MS-MLPA methylation-sensitive multiplex ligation-dependent probe amplification, N not present, Y present, −-, information not available