Epilepsy Journal

Department of Medical Genetics, University of Medicine and Pharmacy, Romania

Publications

• Mini Review   
  Examining New Cases Clinically and Genetically
  Author(s): Eva Cristiana*
  
  The rare disorder Wolf-Hirschhorn syndrome (WHS), which is caused by a distal 4p deletion, is characterised by craniofacial dysmorphism, congenital fusion abnormalities, hypotonia, intellectual impairment, and epilepsy. The clinical characteristics depend on the magnitude of the deletion. Our goals included identifying unusual distinct traits in a cohort of seven patients with 4p deletion and evaluating the usefulness of Multiplex ligation-dependent probe amplification (MLPA) (cheap and sensitive test)-combined kits as a diagnostic test and tool for cases that need additional research (chromosomal microarray analysis-CMA, karyotype). The basic characteristics of facial dysmorphism, intellectual disability, postnatal development delay, heart abnormalities, and hypotonia were detected during a clinical examination for all cases. We occasionally noticed renal anomalies, immunodeficiencie.. Read More»
  DOI: 10.37421/2472-0895.2022.8.169

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