ArticleThe Ulster medical journal2008
DiGeorge syndrome presenting as late onset hypocalcaemia in adulthood.
Article in The Ulster medical journal, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 17 citations in OpenAlex.
- Phenotype of patients with late diagnosis of 22q11 deletion: a review and retrospective study.Internal medicine journal · 2024Review
- Late diagnosis of DiGeorge syndrome in a 13-year-old male with subclinical course of the disease - case report and literature review.Pediatric endocrinology, diabetes, and metabolism · 2023Review
- Hypoparathyroidism and late-onset hypogonadism in an adult male with familial 22q11.2 deletion syndrome: a case report with 3-year follow-up and review of the literature.BMC endocrine disorders · 2022Review
- Late maternal diagnosis of DiGeorge syndrome with congenital hypoparathyroidism following antenatal detection of the same 22q11.2 microdeletion syndrome in the fetus.BMJ case reports · 2022Article
- What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of 'Internal Medicine for Rare Genetic Syndromes'.Journal of clinical medicine · 2021Article
- Delayed diagnosis of 22q11 deletion syndrome due to late onset hypocalcemia in a 11-year-old girl with imperforated anus.Annals of pediatric endocrinology & metabolism · 2017Article
- An Adult Case of Chromosome 22q11.2 Deletion Syndrome Associated with a High-positioned Right Aortic Arch.Internal medicine (Tokyo, Japan) · 2017Article
- 22q11.2 microdeletion in two adolescent patients who presented with convulsion.Turk pediatri arsivi · 2014Article
- DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood.Case reports in medicine · 2013Article
- Case report: two patients with partial DiGeorge syndrome presenting with attention disorder and learning difficulties.Journal of clinical research in pediatric endocrinology · 2011Article
Corrections and comments
- Erratum issuedDonnelly, Deirdre K [corrected to Donnelly, Deirdre E]
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report a 29 year old female with mild dysmorphic facial features, presenting with late onset symptomatic hypocalcaemia in adulthood. The presence of hypoparathyroidism in association with a history of transient neonatal hypocalcaemia and velopharyngeal incompetence during childhood, prompted chromosomal analysis for DiGeorge Syndrome. Fluorescence in situ hybridisation (FISH) analysis revealed a deletion of chromosome 22q11.2. This case is unusual in that the patient remained asymptomatic apart from speech and language delay after the first few months of life and presented in adulthood without any associated immunological, cardiac or renal abnormalities. The diagnosis has important implications for health and family planning.
Indexed as
Identifiers
18956803PMC2604478W1602416519What OpenQuestion holds
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.