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Mutational Screening and Prenatal Diagnosis in Cornelia de Lange syndrome

The Journal of Obstetrics and Gynecology of India volume 64, pages 27–31 (2014)Cite this article

Abstract

Phenotypic variability and the lack of a diagnostic marker have complicated the rapid diagnosis and genetic counseling for Cornelia de Lange syndrome (CdLS). The clinical features of CdLS are striking and easily recognizable by characteristic facial dysmorphism, upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities with severe mental retardation. The molecular diagnosis is essential for predicting prognosis and genetic counseling in the affected family, especially while planning the next pregnancy. We report here from India six cases of CdLS and how precise mutational screening in two cases helped in prenatal diagnosis and proved significant in prevention of recurrence in the affected family.

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Acknowledgments

We would like to acknowledge the help in the molecular diagnosis given to us by Dr. Ian Krantz, of The Children’s Hospital of Philadelphia, Philadelphia. We greatly thank all the physicians for referring the patients and parents for their cooperation during the PhD work at CREMERE, Mumbai.

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Affiliations

  1. Medical Geneticist and Neuroscientist, Principal Scientist-R&D, Super Religare Laboratories (SRL) Ltd, S.V. Road, Goregaon-West, Mumbai, 400 063, Maharashtra, India

    Usha Dave

  2. Cytogeneticist, Department of Cytogenetic, Super Religare Laboratories, Mumbai, India

    Dhanlaxmi Shetty

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  1. Usha Dave
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  2. Dhanlaxmi Shetty
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Correspondence to Usha Dave.

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Dave, U., Shetty, D. Mutational Screening and Prenatal Diagnosis in Cornelia de Lange syndrome. J Obstet Gynecol India 64, 27–31 (2014). https://doi.org/10.1007/s13224-013-0450-y

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Keywords

  • Cornelia de Lange syndrome
  • Prenatal diagnosis
  • Mental retardation