Phelan-McDermid syndrome and cancer predisposition: The value of a karyotype

Am J Med Genet A. 2018 Jan;176(1):144-145. doi: 10.1002/ajmg.a.38541. Epub 2017 Dec 6.

Authors

Kent D McKelvey Jr¹, Carol J Trana¹, Jill Kelsay¹, Jeffrey Sawyer², Jeffrey Clothier³

Affiliations

¹ Adult Medical Genetics Clinic, Division of Medical Genetics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
² Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
³ Psychiatric Research Institute, Walker Family Psychiatric Clinic, University of Arkansas for Medical Sciences, Little Rock, Arkansas.

PMID: 29210508
DOI: 10.1002/ajmg.a.38541

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Chromosome Deletion
Chromosome Disorders / diagnosis*
Chromosome Disorders / genetics*
Chromosome Disorders / therapy
Chromosomes, Human, Pair 22 / genetics
Electroencephalography
Female
Genetic Association Studies* / methods
Genetic Predisposition to Disease*
Genetic Testing
Humans
Karyotype
Karyotyping / methods
Magnetic Resonance Imaging / methods
Neoplasms / diagnosis*
Neoplasms / genetics*
Phenotype

Supplementary concepts

Telomeric 22q13 Monosomy Syndrome