Related Experiment Video

Updated: Oct 19, 2026

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System
07:34

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System

Published on: May 5, 2018

Chromosome 22q11 microdeletion and congenital heart disease--a survey in a paediatric population

D E Yong1, P Booth, J Baruni

  • 1Neonatal Unit, Aberdeen Maternity Hospital, Scotland, UK.

European Journal of Pediatrics
|July 21, 1999
PubMed

Insights

Microdeletion of chromosome 22q11 is rare in children with congenital heart disease. This study found only one case among 87 patients tested using fluorescent in-situ hybridization.

Area of Science:

  • Genetics
  • Pediatric Cardiology
  • Molecular Biology

Background:

  • Congenital heart disease (CHD) is frequently observed in individuals with 22q11.2 microdeletion syndrome.
  • The epidemiological significance of 22q11.2 microdeletion as a cause of CHD requires further investigation.

Purpose of the Study:

  • To ascertain the prevalence of 22q11.2 microdeletion in a pediatric cardiac patient cohort.
  • To evaluate the association between 22q11.2 microdeletion and structural congenital heart disease.

Main Methods:

  • Fluorescent in-situ hybridization (FISH) analysis using probe D22S75 was performed on blood samples.
  • Patients were assessed for clinical features of 22q11.2 microdeletion and family history of CHD.
  • A consecutive series of children in a pediatric cardiac clinic and neonates with structural CHD were studied.

Main Results:

  • Out of 111 participating families (87 FISH results), one patient (1.1%) was diagnosed with 22q11.2 microdeletion, presenting with DiGeorge syndrome.
  • No deletions were found in patients with CHARGE association, nasal speech, high arched palate, or minor facial dysmorphic features.
  • The study identified a low prevalence of 22q11.2 microdeletion in the studied cohort.

Conclusions:

  • 22q11.2 microdeletion, as detected by FISH with probe D22S75, is uncommon in patients with structural congenital heart disease.
  • The findings suggest that 22q11.2 microdeletion is not a frequent cause of structural CHD in this population.
  • Further research may be warranted to explore other genetic factors contributing to CHD.
Abstract

More Related Videos

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods08:28

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods

Published on: March 10, 2020

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants09:16

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Related Concept Videos

Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies01:22

Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies

The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
Sex-linked Disorders02:28

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.Y chromosome mutations are called “Y-linked” and only affect males since they alone carry a copy of that chromosome. Mutations to the relatively small Y chromosome can impact male sexual function and secondary sex characteristics. Y-chromosome infertility is a disorder that affects sperm...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
Mitral Stenosis II: Clinical features and Diagnostic Tests01:23

Mitral Stenosis II: Clinical features and Diagnostic Tests

Mitral stenosis is a heart condition in which the mitral valve, which allows blood to flow from the left atrium to the left ventricle, becomes narrowed or stenotic. This narrowing hinders blood flow and leads to clinical symptoms requiring specific medical evaluations and management strategies. The following overview outlines the clinical symptoms, assessments, diagnostic findings, prevention methods, and treatments for mitral stenosis.Clinical ManifestationsDyspnea (shortness of breath): This...
Meiosis I03:20

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...