ArticleIntractable & rare diseases research2017
Microdeletion of chromosome 1q21.3 in fraternal twins is associated with mental retardation, microcephaly, and epilepsy.
Article in Intractable & rare diseases research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 8 citations in OpenAlex.
- A genome-wide pleiotropy study between atopic dermatitis and neuropsychiatric disorders.Human genomics · 2025Article
- GATAD2B-related developmental and epileptic encephalopathy (DEE): Extending the epilepsy phenotype and a literature appraisal.Epilepsia open · 2025Review
- High-resolution genomic profiling and locus-specific FISH in subcutaneous and visceral adipose tissue of obese patients.Frontiers in genetics · 2023Article
- [Copy number variation and parental consanguinity elevated in newborns of high altitude with major congenital anomalies in Perú].Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina) · 2022Article
- Article
- The Ras Superfamily of Small GTPases in Non-neoplastic Cerebral Diseases.Frontiers in molecular neuroscience · 2019Review
- RIT2: responsible and susceptible gene for neurological and psychiatric disorders.Molecular genetics and genomics : MGG · 2018Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Reported here are twins, both of whom have a 1q21.3 microdeletion and who exhibit key features common to previously reported cases such as microcephaly and developmental delay. However, some clinical findings and deleted genes differed from those in previously reported cases. The karyotype was normal 46, XX for both of the twins. Array comparative genomic hybridization (CGH) identified a 2.6 Mb deletion on chromosome 1q21.3 (chr1: 153,514,121-156,171,335 bp) in case 1 and a 1.6 Mb deletion on chromosome 1q21.3 (chr1: 154,748,365-156,358,923 bp) in case 2. The deleted region includes
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Registered trials
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