A Case with Partial Monosomy 6q and Partial Trisomy 14q Derived from Maternal Balanced Translocation / 대한주산의학회잡지

ABSTRACT

There are several cases of partial monosomy or partial trisomy derived from maternal balanced translocation, but partial monosomy 6q and partial trisomy 14q derived from maternal balanced translocation has not been reported around the world. The authors experienced a case of partial monosomy 6q and partial trisomy 14q derived from maternal reciprocal balanced translocation t (6;14) in a neonate with multiple anomalies including intrauterine growth retardation, facial and cardiac anomalies. We report the case with a brief review of associaed lieratures.