Loh Marissa, Schildkraut Tamar, Byrnes Angela, Gelfand Nikki, Gugasyan Lucy, Horton Ari E, Hunter Matthew F, Ojaimi Samar
Paediatrics, Monash Children's Hospital, Monash Health, Melbourne, Victoria, Australia.
School of Clinical Sciences, Monash University, Melbourne, Victoria, Australia.
Intern Med J. 2024 Dec;54(12):2015-2026. doi: 10.1111/imj.16534. Epub 2024 Oct 19.
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.
To summarise key clinical features in cases of 22q11DS diagnosed during adolescence and adulthood.
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.
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.
Chromosome 22q11DS has diverse clinical features and a highly variable phenotype, likely contributing to underdiagnosis and later diagnoses.
22号染色体长臂11.2区缺失综合征（22q11DS）是最常见的微缺失综合征，通常在新生儿中表现为先天性心脏异常、低钙血症和胸腺发育不全。一些患者在青少年期和成年期才被诊断出来，人们对这些患者的临床表型了解较少。
总结在青少年期和成年期诊断出的22q11DS病例的关键临床特征。
这是一项对2010年至2021年13岁后被诊断为22q11DS的患者进行的回顾性队列研究，并对已发表病例的文献进行综述，突出其他晚期诊断病例。该研究在澳大利亚墨尔本的一个大型多中心三级医疗网络中进行。13岁后被诊断为22q11DS的患者被纳入研究。主要观察指标是22q11DS晚期诊断病例的关键临床特征。
文献检索得到53篇已发表的病例报告和1篇队列研究以供综述（共62名受试者）。此外，通过回顾性电子病历审查确定了10例22q11DS晚期诊断病例。研究结果表明，智力残疾和学习困难、伴有甲状旁腺功能减退的低钙血症以及面部畸形仍然是22q11DS晚期诊断患者的关键特征，低钙血症是导致诊断的最常见表现。成年期诊断出的患者可能缺乏先天性心脏异常和胸腺发育不全的典型临床特征。22q11DS的免疫后果也是后期需要考虑的一个重要因素。非典型特征可能包括基底节钙化。
22号染色体q11DS具有多样的临床特征和高度可变的表型，这可能导致诊断不足和诊断延迟。
