ArticleJournal of medical genetics1995
Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion.
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 9 papers.
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Who cites it
9 citing papers in PubMed, 25 citations in OpenAlex.
- Article
- Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size.Molecular cytogenetics · 2012Article
- Prediction, prevention and personalisation of medication for the prenatal period: genetic prenatal tests for both rare and common diseases.The EPMA journal · 2011Article
- Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2006Article
- 22q11 microdeletion studies in the heart tissue of an abortus involving a familial form of congenital heart disease.Journal of clinical laboratory analysis · 2006Article
- Phenotype of adults with the 22q11 deletion syndrome: A review.American journal of medical genetics · 1999Review
- Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations.Journal of medical genetics · 1998Article
- Prenatal diagnosis by FISH of a 22q11 deletion in two families.Journal of medical genetics · 1998Article
- Prenatal diagnosis of 22q11 deletions: a series of five cases with congenital heart defects.Journal of medical genetics · 1997Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report on a prenatal diagnosis by FISH of a familial 22q11 deletion associated with DiGeorge syndrome (DGS). The deletion was seen in the proband with symptoms of full DGS, in the physically normal father, and in a subsequent pregnancy. After birth this child showed hypocalcaemia, a T cell deficit, and a right sided aortic arch.
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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.