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

Author:

Alberti A,Romano C,Falco M,Calì F,Schinocca P,Galesi O,Spalletta A,Di Benedetto D,Fichera M

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference11 articles.

1. A common molecular basis for rearrangement disorders on chromosome 22q11;Edelmann;Hum Mol Genet,1999

2. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients;Carlson;Am J Hum Genet,1997

3. Two cases of interstitial duplications detected only by interphase FISH;Papenhausen;Am J Hum Genet,2002

4. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients;Ensenauer;Am J Hum Genet,2003

5. Searching for patients with the 22q11.2 duplication syndrome: confirmation that some patients have phenotypic overlap with DiGeorge/velocardiofacial syndrome;Lamb;Am J Hum Genet,2004

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