Tetrasomy 5p mosaicism in a boy with delayed growth, hypotonia, minor anomalies, and an additional isochromosome 5p [46,XY/47,XY, + i(5p)]
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference18 articles.
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1. Diagnosis and clinical delineation of mosaic tetrasomy 5p;European Journal of Medical Genetics;2020-01
2. Mosaic chromosome 5p tetrasomy: eye closure-induced seizures in a rare neurocutaneous syndrome;Acta Neurologica Belgica;2019-07-10
3. A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy – case report and review of the literature;Molecular Cytogenetics;2018-05-09
4. Unusual isochromosome 5p marker chromosome;American Journal of Medical Genetics Part A;2014-11-25
5. Chromosomal aberrations in cerebral visual impairment;European Journal of Paediatric Neurology;2014-11
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