Journal article
A clinical review of generalized overgrowth syndromes in the era of massively parallel sequencing
Molecular Syndromology, Vol.9(2), pp.70-82
2018
Abstract
The overgrowth syndromes are important to diagnose, not just for accurate genetic counseling, but also for knowledge surrounding cancer surveillance and prognosis. There has been a recent expansion in the number of genes associated with a mendelian overgrowth phenotype, so this review updates previous classifications of overgrowth syndromes. We also describe a clinical and molecular approach to the investigation of individuals presenting with overgrowth. This review aims to assist the clinical diagnosis of generalized overgrowth syndromes by outlining the salient features of well-known overgrowth syndromes alongside the many syndromes that have been discovered and classified more recently. We provide key clinical “handles” to aid clinical diagnosis and a list of genes to aid with panel design when using next generation sequencing, which we believe is frequently needed due to the overlapping phenotypic features seen between overgrowth syndromes.
Details
- Title
- A clinical review of generalized overgrowth syndromes in the era of massively parallel sequencing
- Authors/Creators
- B. Kamien (Author/Creator) - Hunter GeneticsA. Ronan (Author/Creator) - Hunter GeneticsG. Poke (Author/Creator) - Capital and Coast District Health BoardI. Sinnerbrink (Author/Creator) - Nepean HospitalG. Baynam (Author/Creator) - South Western Sydney Local Health DistrictM. Ward (Author/Creator) - South Western Sydney Local Health DistrictW.T. Gibson (Author/Creator)T. Dudding-Byth (Author/Creator)R.J. Scott (Author/Creator) - University of Newcastle Australia
- Publication Details
- Molecular Syndromology, Vol.9(2), pp.70-82
- Publisher
- S. Karger AG
- Identifiers
- 991005540390707891
- Copyright
- © 2018 S. Karger AG, Basel
- Murdoch Affiliation
- Institute for Immunology and Infectious Diseases
- Language
- English
- Resource Type
- Journal article
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- Citation topics
- 1 Clinical & Life Sciences
- 1.186 Chromosome Disorders
- 1.186.1533 Genomic Imprinting
- Web Of Science research areas
- Genetics & Heredity
- ESI research areas
- Molecular Biology & Genetics