A recognizable phenotype in a child with partial duplication 13q in a family with t(10q;13q)

Abstract

A case of partial duplication 13q14 leads to qter is reported in a 9-year-old male with clinical symptoms which include trigonocephaly and synophrys, producing an easily identifiable phenotype. The chromosome duplication resulted from a familial t(10;13)(qtr;q14). Subsequently, a normal balanced carrier sibling was diagnosed prenatally.