Please use this identifier to cite or link to this item: https://repository.monashhealth.org/monashhealthjspui/handle/1/52673
Title: Phenotype of patients with late diagnosis of 22q11 deletion: a review and retrospective study.
Authors: Loh M.;Schildkraut T.;Byrnes A.;Gelfand N.;Gugasyan L.;Horton A.E. ;Hunter M.F. ;Ojaimi S. 
Monash Health Department(s): Paediatric - General Paediatrics
Monash University - School of Clinical Sciences at Monash Health
Genetics
Cardiology (MonashHeart)
Infectious Diseases and Clinical Microbiology
Immunology and Allergy
Institution: (Loh) Paediatrics, Monash Children's Hospital, Monash Health, Melbourne, VIC, Australia
(Schildkraut) School of Clinical Sciences, Monash University, Melbourne, VIC, Australia
(Byrnes, Gelfand, Horton, Hunter) Monash Genetics, Monash Health, Melbourne, VIC, Australia
(Gelfand, Hunter) Department of Paediatrics, Monash University, Melbourne, VIC, Australia
(Gugasyan) Cytogenetics Laboratory, Monash Health, Melbourne, VIC, Australia
(Horton) Monash Heart, Monash Health, Melbourne, VIC, Australia
(Horton) Victorian Heart Institute, Monash University, Melbourne, VIC, Australia
(Ojaimi) Immunology Laboratory, Monash Health, Melbourne, VIC, Australia
(Ojaimi) Department of Medicine, Monash University, Melbourne, VIC, Australia
(Ojaimi) Infectious Diseases, Monash Health, Melbourne, VIC, Australia
Issue Date: 24-Oct-2024
Copyright year: 2024
Publisher: John Wiley and Sons Inc
Place of publication: Australia
Publication information: Internal Medicine Journal. (no pagination), 2024. Date of Publication: 2024.
Journal: Internal Medicine Journal
Abstract: Background: Chromosome 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome, typically presenting in neonates with congenital cardiac anomalies, hypocalcaemia and thymic hypoplasia. Some patients are diagnosed later in adolescence and adulthood, with less known about the clinical phenotype of these patients. Aim(s): To summarise key clinical features in cases of 22q11DS diagnosed during adolescence and adulthood. Method(s): This is a retrospective cohort study of 22q11DS patients diagnosed after 13 years of age over 2010-2021, with a literature review of published cases highlighting other late diagnoses. The study was performed in a large multicentre tertiary health network in Melbourne, Australia. Patients diagnosed with 22q11DS after the age of 13 years were included in the study. Main outcome measures were key clinical features in cases of late diagnosis of 22q11DS. Result(s): A literature search yielded 53 published case reports and one cohort study for review (62 subjects). Additionally, 10 cases of late diagnosis of 22q11DS were identified through a retrospective electronic medical chart review. Findings suggest that intellectual disability and learning difficulties, hypocalcaemia with hypoparathyroidism and facial dysmorphism remain key features in patients with a late diagnosis of 22q11DS, with hypocalcaemia being the most common presentation leading to diagnosis. Patients diagnosed in adulthood may lack classical clinical features of congenital cardiac anomalies and thymic hypoplasia. Immunological consequences of 22q11DS are also an important late-onset consideration. Atypical features may include basal ganglia calcification. Conclusion(s): Chromosome 22q11DS has diverse clinical features and a highly variable phenotype, likely contributing to underdiagnosis and later diagnoses.Copyright © 2024 The Author(s). Internal Medicine Journal published by John Wiley & Sons Australia, Ltd on behalf of Royal Australasian College of Physicians.
DOI: https://dx.doi.org/10.1111/imj.16534
PubMed URL: 39425634 [https://www.ncbi.nlm.nih.gov/pubmed/?term=39425634]
URI: https://repository.monashhealth.org/monashhealthjspui/handle/1/52673
Type: Article
Subjects: adolescent
chromosome deletion 22q11
clinical clinical feature
cohort analysis
congenital heart malformation
delayed diagnosis
diagnosis
DiGeorge syndrome
Fahr disease
hypocalcemia
hypoparathyroidism
intellectual impairment
learning disorder
medical record review
newborn
phenotype
retrospective study
thymus hypoplasia
underdiagnosis
Type of Clinical Study or Trial: Observational study (cohort, case-control, cross sectional, or survey)
Appears in Collections:Articles

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