ABSTRACT

Chromosomal abnormalities account for a significant percentage of congenital malformations in the neonate. Here we report a male newborn that had cystic hygroma associated with dysmorphic features which were not accounted for a clinically recognizable dysmorphic syndrome. Cytogenetic analysis revealed a karyotype of 46, XY, t (3; 4) (p13; p14) translocation.

Once the chromosome analysis is complete, not only the prognosis can be better defined, but the information acquired may also be used to provide risk estimates for chromosomal abnormalities in future pregnancies of the parents of the affected infant and for other relatives.

Keywords: Multiple congenital abnormalities, cytogenetic analysis, translocation