@article{Zisovska_Lazovska_2013, title={The Importance of Down Syndrome Phenocopies in the Newborns in Tertiary Obstetric Hospital}, volume={1}, url={https://oamjms.eu/index.php/mjms/article/view/oamjms.2013.007}, DOI={10.3889/oamjms.2013.007}, abstractNote={<p style="margin: 0cm 0cm 6pt; text-align: justify;"><strong><span style="color: black; font-family: ’Arial’,’sans-serif’; font-size: 8pt;" lang="EN-GB">Background:</span></strong><span style="color: black; font-family: ’Arial’,’sans-serif’; font-size: 8pt; mso-bidi-font-weight: bold;" lang="EN-GB"> A phenotype is the composite of the observable characteristics, and in some cases it is not representative for identification of recognized genetic structure. </span></p><p style="margin: 0cm 0cm 6pt; text-align: justify;"><strong><span style="color: black; font-family: ’Arial’,’sans-serif’; font-size: 8pt;" lang="EN-GB">Aim:</span></strong><span style="color: black; font-family: ’Arial’,’sans-serif’; font-size: 8pt; mso-bidi-font-weight: bold;" lang="EN-GB"> The aims of the study were to present the incidence and clinical features of dismorphia in newborn children, and to investigate the prevalence of phenocopies among them. </span></p><p style="margin: 0cm 0cm 6pt; text-align: justify;"><strong><span style="color: black; font-family: ’Arial’,’sans-serif’; font-size: 8pt;" lang="EN-GB">Material and Methods:</span></strong><span style="color: black; font-family: ’Arial’,’sans-serif’; font-size: 8pt; mso-bidi-font-weight: bold;" lang="EN-GB"> Newborns born at the University Clinic for Gynecology & Obstetrics, having at least 3 minor anomalies (mm) specific for Down syndrome were investigated. Patients’ histories, observation, cytogenetic analysis of peripheral blood samples were analysed. </span></p><p style="margin: 0cm 0cm 6pt; text-align: justify;"><strong><span style="color: black; font-family: ’Arial’,’sans-serif’; font-size: 8pt;" lang="EN-GB">Results:</span></strong><span style="color: black; font-family: ’Arial’,’sans-serif’; font-size: 8pt; mso-bidi-font-weight: bold;" lang="EN-GB"> Among 17835 liveborns during 5 years’ period, 128 were detected having at least 3 mm, calculated incidence of dysmorphia 0.83% (1:139). Cytogenetic analysis was not performed in 3.1% (4/128) due to immediate death or transfers elsewhere, 30.5% (39/128) were confirmed Down syndrome. Cytogenetic analysis showed trisomy 21 in 97.4%; Robertsonian translocation had one newborn (2.6%); normal cytogenetic structure had 66.4% (85/128) of the newborns. </span></p><strong><span style="color: black; font-family: ’Arial’,’sans-serif’; font-size: 8pt; mso-fareast-font-family: ’Times New Roman’; mso-fareast-language: EN-GB; mso-ansi-language: EN-GB; mso-bidi-language: AR-SA;" lang="EN-GB">Conclusons:</span></strong><span style="color: black; font-family: ’Arial’,’sans-serif’; font-size: 8pt; mso-fareast-font-family: ’Times New Roman’; mso-fareast-language: EN-GB; mso-ansi-language: EN-GB; mso-bidi-language: AR-SA; mso-bidi-font-weight: bold;" lang="EN-GB"> Other studies didn’t highlight the proportion of phenocopies of Down syndrome in unselected population of newborns, mainly investigating sick children, disabled, or older-aged. As more the critical role of phenocopy emerges, the more the initial difficulty in detecting gene-gene interactions is amplified. Neglecting the possible presence of phenocopies in complex traits, heavily affects the analysis of their genetic data.</span>}, number={1}, journal={Open Access Macedonian Journal of Medical Sciences}, author={Zisovska, Elizabeta and Lazovska, Bratica}, year={2013}, month={Dec.}, pages={32–37} }