| Autor: |
Stanisław Zajączek, Aleksandra Pietrzyk, Aleksander Jamsheer, Zofia Litwińska, Małgorzata Henkelman, Krzysztof Piotrowski, Małgorzata Dera |
| Rok vydání: |
2013 |
| Předmět: |
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| Zdroj: |
Pediatria Polska. 88:514-520 |
| ISSN: |
0031-3939 |
| DOI: |
10.1016/j.pepo.2013.08.010 |
| Popis: |
Introduction Chromosomal microaberrations are considered to be one of the most common causes of psychoneurological disability, if it coexists with congenital malformations and/or dysmorphic features. Autosomal duplications produce partial trisomies (covering the defined parts of the genome) with which phenotypic abnormalities are often associated. With new, high-resolution methods of molecular karyotyping it is possible to identify chromosomal microaberrations of several hundred thousand base pairs. Aims Study aims to show diagnostic difficulties in demonstrating the correlation between the phenotype and chromosomal abnormalities, based on an example of 7 patients. Material and methods The study included a group of 7 children (2 girls and 5 boys). Classical methods of karyotyping, the microarray CGH (aCGH) and FISH with locus-specific probes techniques were used to analyze the genome. Results Microduplications found in patients were divided into three different categories, reflecting their presumed clinical significance: 1. Pathogenic aberrations. 2. Presumably pathogenic aberrations. 3. Aberrations with clinical significance currently impossible to interpret. In case of patients with localized submicroscopic chromosomal microduplications there was an attempt to identify the genes contained therein, based on available chromosome maps. Conclusions The explanation of the genetic basis of phenotypic abnormalities ascertained in patients with an abnormal karyotype is a multistep process and requires the use of various techniques for genome analysis. The evaluation of microduplications’ clinical significance is complicated due to very few reports of such syndromes as well as only a few molecular studies on the functions and interactions of expression products of genes in the area of chromosomal rearrangement. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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