Familial transmission of a 3q;22p translocation, with partial trisomy of chromosome 3 in the propositus.
A family, carrying a balanced 3q;22p translocation, was detected through a propositus who showed multiple congenital malformations. As there are no previous references of similar cases where identification techniques were performed, the authors present this material for consideration in the delineation of clinical syndromes associated with specific chromosomal anomalies.
D000015:Abnormalities, Multiple; D002900:Chromosomes, Human, 1-3; D006801:Humans; D007223:Infant; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy