Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.

Bonaglia, Maria Clara

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. [electronic resource] - PLoS genetics Jul 2011 - e1002173 p. digital

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

1553-7404

10.1371/journal.pgen.1002173 doi


Adolescent
Adult
Aged
Aged, 80 and over
Base Sequence
Child
Child, Preschool
Chromosome Deletion
Chromosome Disorders--genetics
Chromosomes, Human, Pair 22--genetics
Comparative Genomic Hybridization
Female
Humans
Infant
Infant, Newborn
Male
Middle Aged
Molecular Sequence Data
Parents
Ring Chromosomes
Sequence Deletion--genetics
Translocation, Genetic
Young Adult