Pediatr. praxi. 2012;13(6):398-400
Cytogenetic variants in clinical pediatrics practice
- Ústav biologie a lékařské genetiky 1. LF UK a VFN, Praha
Up to now, karyotyping remains one of the most important genetic diagnostic methods. And in the frame of clinical pediatrics there are
many regular indications for this classical type of cytogenetic examination. Pediatricians are also confronted with results of prenatally
indicated and performed cytogenetic examinations. However, besides the basic chromosomal abnormalities (numerical or structural
aberrations) there are many benign cytogenetic findings – so called chromosomal variants (heteromorphisms). The notation of a karyotype
including one of these variants, often without any comments, can be a bit confusing for indicating pediatrician. Or even worse,
it can cause inappropriate anxiosity in children’s parents in case the clinical value of this variant is not properly explained to them. We
provide a review of the most common variants and discuss the whole issue from the point of view of clinical pediatrics.
Keywords: karyotype, chromosomes, chromosomal abnormalities, cytogenetic variants
Published: December 1, 2012 Show citation
References
- Salman M, Jhanwar SC, Ostrer H. Will the new cytogenetics replace the old cytogenetics? Clin Genet. 2004; 66(4): 265-275.
Go to original source... 
Go to PubMed... - Šípek A, Gregor V, Šípek A, jr., et al. Vrozené vady u narozených dětí v jednotlivých krajích České republiky v období let 1994-2007. Čes. Gynek. 2010; 75(1): 15-40.
- Sršeň Š, Sršňová K. Základy klinickej genetiky a jej molekulárna podstata. 4. vydání. Martin: Osveta 2005: 445.
- Gardner RJ. Sutherland GR. Chromosome abnormalities and genetic counseling, 3rd ed. Oxford: Oxford University Press 2004: 577.
- Kowalczyk M, Srebniak M, Tomaszewska A. Chromosome abnormalities without phenotypic consequences. J Appl Genet. 2007; 48(2): 157-166. Go to original source... Go to PubMed...
- Brothman AR, Schnedier NR, Saikevych I, et al. Cytogenetic heteromorphisms: survey results and reporting practices of giemsa-band regions that we have pondered for years. Arch Pathol Lab Med, 2006; 130(7): 947-949. Go to original source...
- Wyandt HE, Tonk VS, et al. Atlas of human chromosome heteromorphisms. Dordrecht: Kluwer Academic Press 2004: 3000. Go to original source...
- Shaffer LG, Slovak ML, Campbell LJ. ISCN 2009: An international system for human cytogenetic nomenclature (2009). Basel: Karger 2009: 138.
- Starke H, Seidel J, Henn W, et al. Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements. Eur J Hum Genet. 2002; 10(12): 790-800. Go to original source... Go to PubMed...
- Šípek A jr., Mihalová R, Panczak A, et al. Pokročilý věk matky jako indikace k provedení amniocentézy - zhodnocení karyotypu u 418 vyšetřených plodů. Čes. Gynek. 2011; 76(3): 230-234.
- Balíček P. Paracentrické inverze lidských chromozómů a jejich rizika. Čas. lék. čes, 2004; 143(1): 35-38.
- Balíček P. Pericentrické inverze lidských chromozomů a jejich rizika. Čas. lék čes, 2001; 140(2): 38-42.
- Šípek A jr., Panczak A, Mihalová R, et al. Pericentric inversion of chromosome 9 in medical genetics and clinical counselling. Eur J Hum Genet. 2010; 18(Suppl 1): 122.
- E.C.A. Permanent Working Group for Cytogenetics and Society, Cytogenetic Guidelines and Quality Assurance: A common European framework for quality assessment for constitutional and acquired cytogenetic investigations. 2007, 33 s., dostupné z WWW: [http://www.biologia.uniba.it/eca/NEWSLETTER/NS-17/Guidelines.pdf].