ArticleJournal of medical genetics1995
Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.
Article in Journal of medical genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
What it found
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The trial behind it
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Who cites it
40 citing papers in PubMed, 134 citations in OpenAlex.
- Thymic Epithelium Abnormalities in DiGeorge and Down Syndrome Patients Contribute to Dysregulation in T Cell Development.Frontiers in immunology · 2019Trial
- A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens.American journal of human genetics · 2024Article
- Speech Sounds Production, Narrative Skills, and Verbal Memory of Children with 22q11.2 Microdeletion.Children (Basel, Switzerland) · 2024Article
- Prenatal sonographic and cytogenetic/molecular findings of 22q11.2 microdeletion syndrome in 48 confirmed cases in a single tertiary center.Archives of gynecology and obstetrics · 2022Article
- Inborn errors of thymic stromal cell development and function.Seminars in immunopathology · 2021Review
- A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness.Journal of the Endocrine Society · 2020Article
- Candidate modifier genes for immune function in 22q11.2 deletion syndrome.Molecular genetics & genomic medicine · 2020Article
- Exploratory case study of monozygotic twins with 22q11.2DS provides further clues to circumscribe neurocognitive markers of psychotic symptoms.NeuroImage. Clinical · 2019Article
- Molecular genetics of 22q11.2 deletion syndrome.American journal of medical genetics. Part A · 2018Review
- The genetics of congenital heart disease… understanding and improving long-term outcomes in congenital heart disease: a review for the general cardiologist and primary care physician.Current opinion in pediatrics · 2017Review
- Common mechanisms in development and disease: BMP signaling in craniofacial development.Cytokine & growth factor reviews · 2016Review
- A boy with conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication, 11p15.5 deletion, and 20q13.33 deletion.Child and adolescent psychiatry and mental health · 2016Article
- A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.BMC pediatrics · 2015Article
- Developmental trajectories in 22q11.2 deletion.American journal of medical genetics. Part C, Seminars in medical genetics · 2015Review
- Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.BMC medical genetics · 2014Article
- Decreased DGCR8 expression and miRNA dysregulation in individuals with 22q11.2 deletion syndrome.PloS one · 2014Article
- Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia.Frontiers in immunology · 2013Review
- 22q11 deletion syndrome: a review of the neuropsychiatric features and their neurobiological basis.Neuropsychiatric disease and treatment · 2013Review
- MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome.Developmental cell · 2012Article
- Biallelic expression of Tbx1 protects the embryo from developmental defects caused by increased receptor tyrosine kinase signaling.Developmental dynamics : an official publication of the American Association of Anatomists · 2012Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report monozygotic twins concordant for 22q11.2 deletion but discordant for clinical phenotype. Both boys show the typical dysmorphic features with short palpebral fissures, square nasal tip, small mouth, and both have nasal speech, but only one twin had a heart defect. They show that the phenotypic variability seen in this microdeletion syndrome cannot be explained on the basis of genotypic differences alone.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.