Morandi, Anita

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