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. 1972 Aug;47(254):581–588. doi: 10.1136/adc.47.254.581

Genetics of Atrial Septal Defect

Andrés Sánchez Cascos
PMCID: PMC1648285  PMID: 4261647

Abstract

Of 109 cases of atrial septal defect, cases with an isolated defect (92 cases) showed a female preponderance (sex ratio 0·64), but there was a higher risk to the sibs of the male patients, suggesting a multifactorial mechanism.

Dermatoglyphs showed a large number of whorls on the fingers.

In 17 cases there were multiple malformations, such as Holt-Oram syndrome (hypoplastic and triphalangic thumb, with ostium secundum atrial septal defect), polydactyly plus ostium primum defect, and tracheo-oesophageal fistula.

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Selected References

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