A Case of Partial Trisomy 14q derived from Paternal Balanced Translocation / 대한주산의학회잡지

Partial trisomy 14q is an extremely rare disorder. Approximately 50 cases have been reported around the world. This disorder results from a malsegregation or non-disjunction of balanced translocated chromosome, thus the offspring inherits such a chromosome. In this report, the father's chromosomal arrangement was 46, XY, t(11;14)(q25;q32.1) and the mother had a normal chromosomal arrangement. We experienced a case of partial trisomy 14q in a male neonate who had craniofacial abnormalities, frontal bossing, bulgin fontanelle, hypertelorism, low-set ears, wide and flat nasal bridge, thin cupid bow lip and micrognathia. The karyotype of his chromosome was 46,XY,der(11)t(11;14)(q25;q32.1). We report the case with a review of the literature.