1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.

Alberti, A

1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features. [electronic resource] - Clinical genetics Feb 2007 - 177-82 p. digital

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

0009-9163

10.1111/j.1399-0004.2007.00750.x doi


Aneuploidy
Child, Preschool
Chromosomes, Human, Pair 22--genetics
Craniofacial Abnormalities--genetics
DiGeorge Syndrome--genetics
Female
Humans
Intellectual Disability--genetics
Phenotype
Syndrome
Tandem Repeat Sequences