A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array. [electronic resource]
- American journal of medical genetics. Part A Nov 2015
- 2720-6 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1552-4833
10.1002/ajmg.a.37222 doi
Adolescent Adult Child Child, Preschool Chromosomes, Human, Pair 15--genetics DNA Methylation--genetics Electrophoresis, Agar Gel Female Humans Infant Infant, Newborn Male Mosaicism Oligonucleotide Array Sequence Analysis Polymerase Chain Reaction Polymorphism, Single Nucleotide--genetics Prader-Willi Syndrome--genetics Uniparental Disomy--genetics snRNP Core Proteins--genetics