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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