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The 4q-Syndrome
E M Strehle1, O A Ahmed, M Hameed
1Department of Paediatrics, Whittington Hospital, London, United Kingdom. strehle@doctors.org.uk
Insights
The 4q-Syndrome involves deletions on chromosome 4, causing varied symptoms like heart defects and developmental delays. This research proposes a unified term for these chromosomal abnormalities.
Area of Science:
- Genetics
- Human Genetics
- Clinical Genetics
Background:
- Chromosome 4q deletions are rare genetic disorders.
- These deletions can be interstitial or terminal, affecting various genes on the long arm of chromosome 4.
- Previous reports describe diverse phenotypes associated with these deletions.
Observation:
- Four new cases of chromosome 4q deletions are presented.
- Case 1: del(4)(q12q21) with dysmorphic features, Tetralogy of Fallot, and severe developmental delay.
- Case 2: del(4)(q12q21) with congenital cardiomyopathy, fatal birth asphyxia.
- Case 3: del(4)(q33) with mild dysmorphism, heart failure, hypercalcemia, fatal aspiration pneumonia.
- Case 4: del(4)(q33) with Pierre-Robin sequence.
Findings:
- Patients exhibit a range of phenotypes, including congenital heart defects, cardiomyopathy, developmental delay, dysmorphic features, and Pierre-Robin sequence.
- Hypercalcemia and failure to thrive were noted in some cases.
- A complex chromosome 4 rearrangement was identified in one father.
Implications:
- The study suggests a unifying term, "4q-syndrome," for all macrodeletions of chromosome 4q.
- Recognizing common features despite phenotypic variability aids in diagnosis and management.
- Further research into genotype-phenotype correlations is warranted for better understanding and potential therapeutic strategies.
Abstract:
The 4q-Syndrome: Here we report four cases of interstitial and terminal deletions of the long arm of chromosome 4. Case 1 is a 16 month old boy with del(4)(q12q21) who has soft dysmorphic features, tetralogy of Fallot, and severe developmental delay. Case 2 is a male infant with the same deletion and congenital cardiomyopathy. He suffered severe birth asphyxia and died at the age of 6 months. His father was found to have a complex chromosome 4 rearrangement. Case 3 is a female infant with del(4)(q33) who died of aspiration pneumonia. She was mildly dysmorphic and presented with heart failure and hypercalcaemia. Case 4 is a 8 month old girl who has del(4)(q33) and Pierre-Robin sequence. So far about 70 patients with microscopically visible deletions of chromosome 4q have been described. Although they vary in their phenotypes, they have several features in common. We suggest to use the term 4q-syndrome for all macrodeletions of the long arm of chromosome 4.