12p13 rearrangements: 6 Mb deletion responsible for ID/MCA and reciprocal duplication without clinical responsibility
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference23 articles.
1. Cytogenetic and molecular analysis in trisomy 12p;Allen;Am J Med Genet,1996
2. A familial cryptic subtelomeric deletion 12p with variable phenotypic effect;Baker;Clin Genet,2002
3. Distal 12p deletion in a stillborn infant;Baroncini;Am J Med Genet,1990
4. Genomic rearrangements in inherited disease and cancer;Chen;Semin Cancer Biol,2010
5. Cytogenetic studies in male infertility: A review;De Braekeleer;Hum Reprod,1991
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1. Variable Phenotypes of Epilepsy, Intellectual Disability, and Schizophrenia Caused by 12p13.33–p13.32 Terminal Microdeletion in a Korean Family: A Case Report and Literature Review;Genes;2021-06-29
2. 7p21.3 Together With a 12p13.32 Deletion in a Patient With Microcephaly—Does 12p13.32 Locus Possibly Comprises a Candidate Gene Region for Microcephaly?;Frontiers in Molecular Neuroscience;2021-02-04
3. CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers;European Journal of Medical Genetics;2020-04
4. Cognitive and Behavioral Functioning Among Fraternal Twins with an Unbalanced Translocation of Chromosomes 10q and 12p: A Case Report;Journal of Developmental and Physical Disabilities;2019-03-13
5. Copy number variation analysis of patients with intellectual disability from North-West Spain;Gene;2017-08
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