A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions
- 1 July 2006
- journal article
- case report
- Published by Wolters Kluwer Health in Clinical Dysmorphology
- Vol. 15 (3), 145-148
- https://doi.org/10.1097/01.mcd.0000198934.55071.ee
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.Keywords
This publication has 8 references indexed in Scilit:
- 3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New SyndromeAmerican Journal of Human Genetics, 2005
- Dilated cardiomyopathy in a 3-year-old girl with a terminal deletion, 46,XX,del(3)(q27-qter), of the long arm of chromosome 3European Journal of Pediatrics, 2003
- Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformationsJournal of Medical Genetics, 2001
- Signal-Processing Machines at the Postsynaptic DensityScience, 2000
- Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27→qter)]American Journal of Medical Genetics, 1996
- Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features.Journal of Medical Genetics, 1989
- Deletion 3q27?3qter in an infant with mild dysmorphism, parietal meningocele, and neonatal miliaria rubra-like lesionsHuman Genetics, 1989
- Trigonocephaly and the Opitz C syndrome.Journal of Medical Genetics, 1985