ABSTRACT

Translocation generally refers to a change of chromosomal fragments between two non-homologous chromosomes. Translocations can simply be divided into three subgroups; reciprocal, Robertsonian and interstitial. Reciprocal translocations may be seen in a "familial" pattern or they may be de novo. In a familial type, phenotypic finding is not expected. However, de novo translocations may cause phenotypic findings in 7-10% of the cases. However, reciprocal translocations, if stable, do not generally give any phenotypic findings. Phenotypic affection can be seen in the chromosomes of the children of these subjects if partial monosomy or trisomy occurs at the related chromosome. Herein we report a case with growth retardation, congenital cardiac defects, semilobar holoprosencephaly and de novo translocation between chromosomes 1 and 18.