Publications by authors named "N Horelli-Kuitunen"

Objectives: The implementation of chromosomal microarray analysis (CMA) in prenatal testing for all patients has not achieved a consensus. Technical alternatives such as Prenatal BACs-on-Beads(TM) (PNBoBs(TM) ) have thus been applied. The aim of this study was to provide the frequencies of the submicroscopic defects detectable by PNBoBs(TM) under different prenatal indications.

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Article Synopsis
  • * Out of 24 prenatal cases examined, most were inherited, with some cases showing new mutations, and seven pregnancies were terminated based on ultrasound results.
  • * The research aims to understand the complex relationship between genetic variations and clinical outcomes, emphasizing the role of additional copy number variations in the variability of symptoms associated with the syndrome.
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Recently, three children with a microduplication in 17p13 including the PAFAH1B1 gene that encodes LIS1 were reported. LIS1 overexpression has earlier been shown to affect brain development by causing migrational defects and reductions in brain volume [Bi et al., 2009].

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