De novo 11q deletion including SHANK2 in a patient with global developmental delay

Am J Med Genet A. 2017 Mar;173(3):801-805. doi: 10.1002/ajmg.a.38075.

Authors

Cherisse A Marcou¹, April L Studinski Jones¹, Marine I Murphree², Salman Kirmani³, Nicole L Hoppman¹

Affiliations

¹ Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
² Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota.
³ Division of Women and Child Health, , Department of Paediatrics and Child Health, The AGA Khan University, Karachi, Pakistan.

PMID: 28211979
DOI: 10.1002/ajmg.a.38075

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Child
Chromosome Deletion*
Chromosomes, Human, Pair 11 / genetics
Developmental Disabilities / diagnosis
Developmental Disabilities / genetics*
Developmental Disabilities / physiopathology
Ehlers-Danlos Syndrome / genetics
Ehlers-Danlos Syndrome / physiopathology
Female
Humans
Nerve Tissue Proteins / genetics*

Substances

Nerve Tissue Proteins
SHANK2 protein, human