The importance of classical cytogenetic examination in clinical paediatric practice: analysis of 384 indications
Authors:
A. Šípek jr. 1; R. Mihalová 1; A. Panczak 1; L. Hrčková 1; M. Janashia 1; A. Baxová 1; J. Zeman 2; T. Honzík 2; M. Kohoutová 1
Authors place of work:
Ústav biologie a lékařské genetiky VFN a UK 1. LF, Prahapřednostka doc. MUDr. M. Kohoutová, CSc.
1; Klinika dětského a dorostového lékařství VFN a UK 1. LF, Prahapřednosta prof. MUDr. J. Zeman, DrSc.
2
Published in the journal:
Čes-slov Pediat 2014; 69 (5): 283-290.
Category:
Original Papers
Summary
Introduction:
Numerical and structural chromosomal abnormalities represent an important group of pathologic conditions in paediatrics. The basic investigation method is the classical cytogenetic examination under the light microscope. The main goal of our study was to analyse the spectrum of paediatric indications for the cytogenetic examination and to analyse the detection rate.
Methods:
Results of standard cytogenetic examinations of paediatric patients (up to the 18th year of age) performed between 2010 and 2012 in the Cytogenetic Laboratory of the Institute of Medical Biology and Genetics of the 1st Faculty of Medicine of Charles University and General University Hospital in Prague were used for our study.
Results:
During the 2010–2012 time period the classical cytogenetic examination was performed in 384 children (204 boys and 180 girls). Pathologic chromosomal abnormality was identified in 35 children (9.1%). The most frequent indication for karyotyping was presence of congenital anomaly (34.6% of cases) followed by psychomotor and/or mental retardation (33.3% of cases). Pathologic karyotype was most often identified in children with clinical suspicion for certain chromosomal syndrome (e.g. Down syndrome) – total 15 cases (3.9% of all examinations). This indication group always had the best detection rate (pathologic karyotypes/all indications) – 26.3%. Presence of isolated congenital anomaly was associated with chromosomal pathology only in 6% of indications and the worst detection rate for pathologic karyotype was in children with short stature (1.3%).
Conclusion:
Classical cytogenetic examination remains in the position of one of the most frequently performed genetic examinations in paediatrics. Cooperation with clinical geneticist is very important for further diagnostics and for decisions on indication of more complex examinations in children with very suspicious phenotype.
Key words:
karyotype, chromosomal abnormalities, genetic syndromes
Zdroje
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Štítky
Neonatology Paediatrics General practitioner for children and adolescentsČlánok vyšiel v časopise
Czech-Slovak Pediatrics
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