ArticleJournal of clinical laboratory analysis2006
22q11 microdeletion studies in the heart tissue of an abortus involving a familial form of congenital heart disease.
Article in Journal of clinical laboratory analysis, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 10 citations in OpenAlex.
- Multiple paralogs and recombination mechanisms contribute to the high incidence of 22q11.2 deletion syndrome.Genome research · 2025Article
- A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects.Molecular genetics & genomic medicine · 2019Article
- Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome.Journal of genetic counseling · 2015Article
- Sperm rates of 7q11.23, 15q11q13 and 22q11.2 deletions and duplications: a FISH approach.Human genetics · 2011Article
- Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India.BMC medical genetics · 2010Article
- Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases.Molecular cytogenetics · 2008Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
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Abstract
Microdeletion of chromosome 22 is responsible for DiGeorge syndrome, Velo Cardio Facial syndrome, and conotruncal defects. Here, we report on a case of microdeletion 22q11.2 in the heart tissue of a miscarried fetus in a family whose two children had died due to complex congenital heart disease. Fluorescence in situ hybridization (FISH) analysis in the couple revealed that the mother was mosaic for microdeletion of chromosome 22q11.2 in 10% of her peripheral lymphocytes. Prenatal diagnosis was offered to her in her third pregnancy. On routine ultrasonography at 10 weeks, the overall view of the heart was normal. However, before any further tests could be performed, she miscarried at 16 weeks. FISH studies on the heart tissue of the abortus revealed 22q11.2 microdeletion with two different cell lines. This suggests the importance of performing FISH studies when there is a history of congenital heart disease, even though ultrasonography shows a normal view of the heart.
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