DefinePK

Abstract

We describe a clinical case of Cornelia de Lange syndrome (CDLs) diagnosed prenatally and present the pathological and cytogenetic findings.Our observations from the pathological analysis, including upper limb hemimelia, short upper limbs, microretrognathia, and hypospadias, were compatible with CDLs. The cytogenetic study revealed a normal karyotype with a series of polymorphisms without clinical relevance according to current studies and a heterozygous duplication encoding a nonsense mutation in the NIPBL gene that resulted in a truncated protein lacking 38% of its amino acids. This duplication has not been previously described in any database or literature available to date.