Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation.

Calounova, Gabriela

Prader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation. [electronic resource] - Neuro endocrinology letters Oct 2006 - 579-85 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0172-780X


Child, Preschool
Chromosomes, Human, Pair 15
Chromosomes, Human, Pair 8
Cytogenetic Analysis
DNA Methylation
Female
Humans
In Situ Hybridization, Fluorescence
Microsatellite Repeats
Prader-Willi Syndrome--genetics
Translocation, Genetic
Uniparental Disomy--genetics