For many years karyotyping has been a successful tool to identify chromosome aberrations in congenital malformations. It has proven to be a highly reliable technique for identifying numerical chromosome changes and structural chromosomal rearrangements, such as deletions, duplications, translocations, or inversions. However, karyotyping has limited resolution of 5-10 Mb and depends on the availability of metaphases. In the last decade, we have experienced the implementation of molecular cytogenetic techniques, resulting in the identification of chromosomal aberrations smaller than 5 Mbp. Because DNA is used as starting material also analysis of paraffin or frozen biopsies is possible. Several genes and loci have been identified, and careful genotype phenotype correlation has lead to the recognition of new syndromes. A further characterization of these new genes and loci involved in the etiology of congenital anomalies will lead to a better understanding of the underlying developmental pathways.

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Keywords Beckwith Wiedemann syndrome, Chromosome aberrations, Congenital anomalies, Congenital diaphragmatic hernia, DNA, DNA microarray, Esophageal atresia, Fryns syndrome, Myc protein, Pallister Killian syndrome, Simpson Golabi Behmel syndrome, Whole-genome analysis, Wolf Hirschhorn syndrome, article, chromosome aberration, chromosome deletion, chromosome duplication, chromosome inversion, comparative genomic hybridization, congenital diaphragm hernia, congenital malformation, cytogenetics, de Lange syndrome, disease association, enzyme substrate, esophagus atresia, fluorescence in situ hybridization, gene deletion, gene duplication, gene translocation, genetic variability, genetics, genotype phenotype correlation, human, karyotyping, microarray analysis, multiplex ligation dependent probe amplification, polymerase chain reaction, priority journal, single nucleotide polymorphism, thyroid transcription factor 1, tracheoesophageal fistula, transcription factor Gli2, transcription factor Gli3, transcription factor Sox2
Persistent URL dx.doi.org/10.1053/j.sempedsurg.2010.03.008, hdl.handle.net/1765/20217
Journal Seminars in Pediatric Surgery
Citation
de Klein, J.E.M.M, & Tibboel, D. (2010). Genetics. Seminars in Pediatric Surgery, 19(3), 234–239. doi:10.1053/j.sempedsurg.2010.03.008