ArticleMolecular cytogenetics2008
Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases.
Article in Molecular cytogenetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 33 citations in OpenAlex.
- Multiple paralogs and recombination mechanisms contribute to the high incidence of 22q11.2 deletion syndrome.Genome research · 2025Article
- Navigating Genetic Testing in Nephrology: Options and Decision-Making Strategies.Kidney international reports · 2025Review
- A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects.Molecular genetics & genomic medicine · 2019Article
- SNP Microarray in FISH Negative Clinically Suspected 22q11.2 Microdeletion Syndrome.Scientifica · 2016Article
- Developmental trajectories in 22q11.2 deletion.American journal of medical genetics. Part C, Seminars in medical genetics · 2015Review
- Molecular screening for 22Q11.2 deletion syndrome in patients with congenital heart disease.Pediatric cardiology · 2014Article
- Molecular Cytogenetics: the first impact factor (2.36).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
- Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size.Molecular cytogenetics · 2012Article
- A case of 3q29 microdeletion syndrome involving oral cleft inherited from a nonaffected mosaic parent: molecular analysis and ethical implications.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2011Article
- Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy.Molecular cytogenetics · 2011Article
- Cytogenetic, molecular-cytogenetic, and clinical-genealogical studies of the mothers of children with autism: a search for familial genetic markers for autistic disorders.Neuroscience and behavioral physiology · 2010Article
- Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India.BMC medical genetics · 2010Article
- Human interphase chromosomes: a review of available molecular cytogenetic technologies.Molecular cytogenetics · 2010Article
- Chromosomal mosaicism goes global.Molecular cytogenetics · 2008Article
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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
Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chromosome 22. It is a common microdeletion syndrome however mosaic cases are very rare and reported only few previous occasions. In this report we describe two unrelated male children with clinical features consistent with 22q11.2 microdeletion syndrome characterized by cardiac defect, facial dysmorphism and developmental deficiency. One of the cases also had trigonocephaly. Interphase & metaphase FISH with 22q11.2 probe demonstrated mosaicism for hemizygous deletion of 22q11.2 region. Mosaicism is also observed in buccal cells as well as urine cells. Parents were without any deletion. These two cases represent rare cases of mosaic 22q11.2 microdeletion syndrome.
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Registered trials
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