'Typus Edinburgensis' Explained

In 1974, an Edinburgh family was described in which five infants from three generations had a consistently abnormal facial appearance, retarded motor and mental development, and failure to thrive. All died in the first months of life. The eponym "Typus Edinburgensis" was used to label these infants.1 Although at that time no chromosomal abnormality was detected, it was predicted that the advancement of cytogenetic technology might eventually reveal an associated chromosomal abnormality. High-resolution chromosome analysis has now identified a familial reciprocal and apparently balanced translocation between chromosomes 1 and 2 in three members of this family, following detection of an unbalanced karyotype in a neonate with an abnormal phenotype similar to that previously described.