Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome

Am J Med Genet A. 2016 Dec;170(12):3348-3351. doi: 10.1002/ajmg.a.37939. Epub 2016 Aug 23.

Authors

Jess F Peterson^{1

2}, David P Bick^{3

4}, Gabrielle C Geddes³, Julie McCarrier³, John W Grignon Jr², Brett Chirempes⁴, Ulrich Broeckel^{3

5}, Fatima Abidi⁶, Richard C Rogers⁶, Luigi Boccuto⁶, Barbara DuPont⁶, Peter vanTuinen^{1

2}

Affiliations

¹ Department of Pathology, Medical College of Wisconsin, Milwaukee.
² Wisconsin Diagnostic Laboratories, Milwaukee.
³ Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee.
⁴ Advanced Genomics Laboratory, Children's Hospital of Wisconsin, Milwaukee.
⁵ Department of Pediatrics, Section of Genomic Pediatrics, Medical College of Wisconsin, Milwaukee.
⁶ Greenwood Genetic Center, Greenwood.

PMID: 27549580
DOI: 10.1002/ajmg.a.37939

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Beckwith-Wiedemann Syndrome / genetics*
Chromosome Duplication*
Chromosomes, Human, Pair 11*
Chromosomes, Human, Pair 22*
Female
Humans
Male