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Possible genes for left heart formation on 11q23.3
J Guenthard1, E Buehler, E Jaeggi
1University Children's Hospital Basel, Postfach, Switzerland.
Annales De Genetique
|January 1, 1994
Summary
A balanced translocation between chromosomes 10 and 11 was observed in a newborn with hypoplastic left heart syndrome. This suggests a potential gene on chromosome 11q23.3 is involved in left heart development.
Area of Science:
- Genetics
- Developmental Biology
- Cardiology
Background:
- Balanced translocations can disrupt gene function and lead to developmental abnormalities.
- Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect with complex etiology.
- Chromosome 11 abnormalities have been implicated in various congenital disorders.
Observation:
- A female newborn presented with a balanced translocation, specifically t(10;11)(q24;q23).
- The infant exhibited hypoplastic left heart syndrome as the sole malformation.
- No other congenital anomalies were noted in the affected infant.
Findings:
- The presence of HLHS in conjunction with the t(10;11)(q24;q23) translocation suggests a potential link.
- Previous literature reports cases of 11q- deletions and HLHS.
- This case supports the hypothesis of critical genes for left heart formation located on chromosome 11q23.3.
Implications:
- The findings suggest that chromosome 11q23.3 may harbor genes crucial for normal left heart development.
- Further research into this chromosomal region could elucidate the genetic basis of HLHS.
- This could potentially lead to improved genetic counseling and diagnostic approaches for HLHS.