Journal article
A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions
Clinical Dysmorphology, Vol.15(3), pp.145-148
2006
Abstract
A further case of 3q29 deletion, in a 13-year-old boy, is described and compared with previous reports. Our case shares a number of dysmorphic and neurodevelopmental features with previously reported individuals with 3q29 microdeletion and is the second reported case with deceleration in head growth – which may be a useful diagnostic clue. Novel features, which may expand the phenotype, include nasal voice, six lumbar vertebrae, lower limb contractures and cerebral sigmoid venous thrombosis. Additionally, cases with cytogenetically visible terminal 3q deletions are reviewed.
Details
- Title
- A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions
- Authors/Creators
- G. Baynam (Author/Creator) - The University of Western AustraliaJ. Goldblatt (Author/Creator) - School of Paediatrics and Child HealthS. Townshend (Author/Creator)
- Publication Details
- Clinical Dysmorphology, Vol.15(3), pp.145-148
- Publisher
- Lippincott Williams & Wilkins
- Identifiers
- 991005542991307891
- Copyright
- © 2006 Lippincott Williams & Wilkins, Inc.
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
UN Sustainable Development Goals (SDGs)
This output has contributed to the advancement of the following goals:
Source: InCites
Metrics
75 Record Views
InCites Highlights
These are selected metrics from InCites Benchmarking & Analytics tool, related to this output
- Citation topics
- 1 Clinical & Life Sciences
- 1.186 Chromosome Disorders
- 1.186.948 Chromosomal Abnormalities
- Web Of Science research areas
- Genetics & Heredity
- ESI research areas
- Clinical Medicine