The reproductive history of a woman diagnosed as having a thalidomide syndrome clearly shows that she is affected by the Holt Oram syndrome (autosomal dominant inheritance).
The problem of considering a phenocopy in genetic counselling is discussed. A study of the family illustrates the wide range of clinical manifestations of the Holt Oram syndrome. Embryological considerations are given.
Key words Embryology - Heart malformation - Holt Oram syndrome - Phenocopy - Thalidomide syndrome - Upper limb defect