CORNELIA DE LANGE SYNDROME: A case report of a new genetic variant

Authors

  • José Claudio Maañón Hospital Costa de Sol, Marbella, Spain

Keywords:

Cornelia de Lange syndrome, NIPBL gene, congenital disorder, multiple malformation

Abstract

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.

Author Biography

José Claudio Maañón, Hospital Costa de Sol, Marbella, Spain

obstetrics and gynecology

References

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Published

2021-11-12

Issue

Vol. 5 No. 1 (2018)

Section

Articles

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