The Clinical and Genetic Spectrum of the Holt-Oram Syndrome (Heart-Hand Syndrome)
Why the study?
What is the chromosomal location of the gene responsible for Holt-Oram syndrome?
Population
Two large families with Holt-Oram syndrome
Design
Other
Authors
Discussion
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Implication
May aid targeted counseling in Holt-Oram families; leaves open precise gene identification and functional validation.
Structured PICO
What is the chromosomal location of the gene responsible for Holt-Oram syndrome?
P
Population
Two large families with Holt-Oram syndrome (Family A with 19 affected members, Family B with 18 affected members)
I
Intervention
Clinical evaluation (radiography, ECG, echocardiography) and genetic-linkage analyses
O
Outcome
Chromosomal location of the Holt-Oram syndrome genesurrogate
The study identifies chromosome 12q2 as the genetic locus for Holt-Oram syndrome, linking it to both skeletal and cardiac developmental defects.
Cite This Study
Basson et al. (1994) studied this question.