Cornelia DE Lange Syndrome: A Case Report of a New Genetic Variant

Authors

  • Francisco Jesús Gonzalez Carvajal Obstetrics and Gynaecology area, Hospital Costa Del Sol, A7 Km 187, Marbella
  • Caridad Ortiz Herrera Obstetrics and Gynaecology area, Hospital Costa Del Sol, A7 Km 187, Marbella
  • Pilar Ruiz Martínez Obstetrics and Gynaecology area, Hospital Costa Del Sol, A7 Km 187, Marbella
  • José Claudio Maañón Di Leo Obstetrics and Gynaecology area, Hospital Costa Del Sol, A7 Km 187, Marbella

Keywords:

Cornelia de Lange syndrome, NIPBL gene, Congenital disorder, Multiple malformation.

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.

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Issue

Vol. 5 No. 1 (2018)

Section

Articles

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