ArticleMolecular cytogenetics2012
Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size.
Article in Molecular cytogenetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 42 citations in OpenAlex.
- Diagnosing failure to thrive: 22q11.2 deletion syndrome in identical twins.BMJ case reports · 2025Article
- 11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four-way balanced chromosomal translocation.Molecular genetics & genomic medicine · 2023Article
- 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
- Prenatal diagnosis of a de novo tetrasomy 15q24.3-25.3: Case report and literature review.Journal of clinical laboratory analysis · 2020Review
- Ontogeny of the facial phenotypic variability in Mexican patients with 22q11.2 deletion syndrome.Head & face medicine · 2019Article
- Exploratory case study of monozygotic twins with 22q11.2DS provides further clues to circumscribe neurocognitive markers of psychotic symptoms.NeuroImage. Clinical · 2019Article
- Review
- Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome.American journal of medical genetics. Part A · 2018Article
- Molecular genetics of 22q11.2 deletion syndrome.American journal of medical genetics. Part A · 2018Review
- SNP Microarray in FISH Negative Clinically Suspected 22q11.2 Microdeletion Syndrome.Scientifica · 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
- Molecular characterization of ring chromosome 18 by low-coverage next generation sequencing.BMC medical genetics · 2015Article
- Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three families.Experimental and therapeutic medicine · 2015Article
- Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect.Molecular cytogenetics · 2015Article
- Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.BMC medical genetics · 2014Article
- 1q25.2-q31.3 Deletion in a female with mental retardation, clinodactyly, minor facial anomalies but no growth retardation.Molecular cytogenetics · 2013Article
- Fluorescence in situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes.The Indian journal of medical research · 2013Article
- Genotype-phenotype correlation in 22q11.2 deletion syndrome.BMC medical genetics · 2012Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report on a pair of male monozygotic twins with 22q11.2 microdeletion, discordant phenotype and discordant deletion size. The second twin had findings suggestive of DiGeorge syndrome, while the first twin had milder anomalies without any cardiac malformation. The second twin had presented with intractable convulsion, cyanosis and cardiovascular failure in the fourth week of life and expired on the sixth week of life, whereas the first twin had some characteristic facial appearance with developmental delay but no other signs of the 22q11.2 microdeletion syndrome including cardiovascular malformation. The fluorescence in situ hybridization (FISH) analysis had shown a microdeletion on the chromosome 22q11.2 in both twins. The interphase FISH did not find any evidence for the mosaicism. The genomic DNA microarray analysis, using HumanCytoSNP-12 BeadChip (Illumina), was identical between the twins except different size of deletion of 22q11.2. The zygosity using HumanCytoSNP-12 BeadChip (Illumina) microarray analysis suggested monozygosity. This observation indicates that altered size of the deletion may be the underlying etiology for the discordance in phenotype in monozygotic twins. We think early post zygotic events (mitotic non-allelic homologous recombination) could have been played a role in the alteration of 22q11.2 deletion size and, thus phenotypic variability in the monozygotic twins.
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Registered trials
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