Related Experiment Video
Updated: Aug 17, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
22q11 deletion: a multisystem disorder requiring multidisciplinary input
K L Greenhalgh1, I A Aligianis, G Bromilow
1Department of Clinical Genetics, Level B, St Michael's Hospital, Southwell Street, Bristol BS2 8EG, UK. Lynn.Greenhalgh@ubht.swest.nhs.uk
Aim:
To draw up recommendations for the investigation and management of children with a microdeletion of chromosome 22q11.
Methods:
A retrospective review of case notes from patients with a chromosome 22q11 microdeletion identified by cytogenetics laboratories of the south and west of Britain over a four year period.
Results:
A total of 210 cases were identified. Age at diagnosis was 0-1 years (34%), 1-4 (17%), 5-17 (35%), and 18 years or more (13%). School age children were less likely to be investigated than infants: echocardiography in school age 86% v in infancy 97%, serum calcium 66% v 89%, renal ultrasound scan 38% v 42%, lymphocyte count 26% v 68%, parental karyotype 78% v 88%. The yield of investigations remained high throughout all age groups with 42% of school age children shown to have hypocalcaemia and 25% abnormal findings on renal ultrasound.
Conclusions:
22q11 microdeletion is a multisystem disorder requiring a set of core investigations at diagnosis. We recommend an echocardiogram, renal ultrasound scan, lymphocyte count and function, serum calcium, and parental karyotype as a minimum. Genetic counselling and community paediatric input is helpful for most families.
More Related Videos
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
12:55Multimodal Protocol for Assessing Metacognition and Self-Regulation in Adults with Learning Difficulties
Published on: September 27, 2020
Related Concept Videos
Sex-linked Disorders
Sex Linked Disorders
Autism Spectrum Disorder
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Attention-Deficit/Hyperactivity Disorder
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings.
Oppositional Defiant Disorder
Diagnostic Criteria and...
Intellectual Disability