A cryptic microdeletion includingMBD5occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35768/fullpdf
Reference14 articles.
1. 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features;Chung;Am J Med Genet Part A,2011
2. Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: A study of 59 patients;De Gregori;J Med Genet,2007
3. Diagnostic genome profiling in mental retardation;de Vries;Am J Hum Genet,2005
4. 2q23.1 microdeletion identified by array comparative genomic hybridisation: An emerging phenotype with Angelman-like features;Jaillard;J Med Genet,2009
5. A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization;Koolen;Clin Genet,2004
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2. A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia;International Journal of Molecular Sciences;2023-08-09
3. Oligogenic inheritance in severe adult obesity;2022-12-21
4. Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome;Clinics;2022-01
5. Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder;Neurology Genetics;2021-03-18
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