AimTo determine the value of short-tandem repeat markers on the chromosome X (X-STR) for prenatal diagnostics of the chromosome X numerical disorders.MethodsWe investigated the genetic variability of 5 X-markers (DXS9895, DXS6810, DXS6803, GATA172D05, and HPRTB) in 183 healthy Croatian individuals (90 men and 93 women). We also tested 13 patients with X chromosome disorders (Turner syndrome – 6 cases; Klinefelter syndrome – 5 cases, and Triple X syndrome – 2 cases). The analysis was performed using polymerase chain reaction amplification with specific primers and electrophoresis on a polyacrylamide gel. The study was performed in 2010.ResultsOur sample showed no significant differences in allelic frequencies of the investigated X-markers from other European populations. A set of 5 X-STR markers was sufficiently informative for a successful determination of the chromosome X numerical abnormalities.ConclusionSince no false positive or negative results were observed, diagnostic value of the investigated X-STR loci for prenatal detection of chromosome X numerical disorders was confirmed. Our study represents an important step toward an improved prenatal diagnostics in Croatia.

Najveći udio svih kromosomopatija u čovjeka čine Downov (trisomija kromosoma 21), Edwardsov (trisomija kromosoma 18) i Patauov (trisomija kromosoma 13) sindrom. Navedena činjenica uputila je na potrebu uvođenja metoda koje bi omogućile brzu dijagnostiku najčešćih numeričkih kromosomskih poremećaja, što je od osobite važnosti u prenatalnoj dijagnostici. Analiza mikrosatelitskih lokusa ili lokusa STR primjenom metode PCR-STR omogućila je brzu dijagnostiku najčešćih aneuploidija u vremenskom razdoblju od jednog do tri dana. Prednost analize lokusa STR u prenatalnoj i postnatalnoj dijagnostici očituje se i u mogućnosti utvrđivanja podrijetla kromosoma u dijagnostici uniparentne disomije. U KBC-u Zagreb brza prenatalna i postnatalna dijagnostika aneuploidija i uniparentne disomije provedena je primjenom analize mikrosatelitskih lokusa kromosoma 7, 11, 13, 14, 15, 18, 21, X i Y. Cilj rada je prikazati dijagnostičku vrijednost primijenjenih mikrosatelitskih lokusa na navedenim kromosomima. Prenatalnim pretraživanjem 2072 uzorka plodovih voda kod njih 55 (2,65%) otkrivena je promjena u broju kromosoma. Očekivano, u najvećem broju uzoraka (n=35) otkrivena je trisomija kromosoma 21. U uzorku od 54-ero ispitanika sa sumnjom na uniparentnu disomiju kod njih 13-ero nađena je uniparentna disomija kromosoma 15 (UPD15). Rezultati metode PCR-STR bili su u skladu s rezultatima metode klasične citogenetike. Zaključno možemo reći da je kombinacija mikrosatelitskih lokusa koju primjenjujemo dostatno informativna za uspješno određivanje aneuploidije kromosoma 13, 18, 21, X i Y i uniparentne disomije kromosoma 7,11,14 i 15.

Aim: With the exception of ring chromosome 14 or translocations, interstitial deletions of the long arm of chromosome 14 are very rare. All patients with these deletions share common phenotypic characteristics, primarily mild dysmorphia and developmental delay. Molecular karyotyping (array CGH) enabled the precise breakpoint determination and improved the analysis of genotype-phenotype correlations. Case presentation: In a 7-year-old girl, array CGH was performed due to developmental delay. The array CGH study showed 8.3Mb de novo interstitial deletion of the 14q31.3–q32.13 region. Conclusions: Comparison of our patient´s phenotype with previously reported chromosome 14q interstitial deletion cases confirmed the presence of common clinical features and highlights the utility of array CGH as a diagnostic tool in clarifying the developmental delay etiology.

2853 cm-1, as biomarkers of apoptosis, were assessed. Our in vitro biological screening system detected embryotoxic/anti-tumor impact of both HDIs. FTIR spectroscopy was able to discern biomarkers of histone acetylation and apoptosis in spent media metabolomes, thus upgrading our biological in vitro system for faster screening of embryotoxic/antitumor agents.