Pure 6p22-pter trisomic patient: Refined FISH characterization and genotype-phenotype correlation
Author:
Funder
Ministry of Health
Publisher
Wiley
Subject
Genetics (clinical)
Reference19 articles.
1. Partial trisomy 6p associated with infantile autism;Burd;Clin Genet,1988
2. Trisomy 6p due to a de novo t(6;12) translocation;Chaveau;Ann Pediatr,1988
3. Directly inherited partial trisomy of chromosome 6p identified in a father and daughter by chromosome microdissection;Delatycki;J Med Genet,1999
4. Partial trisomy 6p and partial monosomy 9p from a de novo translocation 46,XY,−9,+der(9)t(6;9)(p21.1;p24);Eden;Clin Genet,1985
5. Reciprocal chromosome painting shows that the great difference in diploid number between human and African green monkey is mostly due to non-Robertsonian fissions;Finelli;Mamm Genome,1999
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1. Copy Number Variation Analysis of 5p Deletion Provides Accurate Prenatal Diagnosis and Reveals Candidate Pathogenic Genes;Frontiers in Medicine;2022-07-14
2. De novo Pure Partial Trisomy 6p Associated with Facial Dysmorphism, Developmental Delay, Brain Anomalies, and Primary Congenital Hypothyroidism;Molecular Syndromology;2022-07-06
3. Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability;JAMA Neurology;2017-11-01
4. De-novo ‘pure’ partial trisomy (6)(p22.3→pter): a case report and review of the literature;Clinical Dysmorphology;2017-01
5. Glomerulopathy in patients with distal duplication of chromosome 6p;BMC Nephrology;2016-03-21
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