The Importance of Down Syndrome Phenocopies in the Newborns in Tertiary Obstetric Hospital

Zisovska, Elizabeta and Lazovska, Bratica (2013) The Importance of Down Syndrome Phenocopies in the Newborns in Tertiary Obstetric Hospital. Macedonian Journal of Medical Sciences, 6 (4). pp. 370-375.

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Abstract

Background: A phenotype is the co mposite of the observable characteristics, and in some cases it is not representative for identification of recognized genetic structure. Aim: 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. Material and Methods: Newborns born at the U niversity C linic for G ynecology & O bstetrics, having at least 3 minor anomalies (mm) specific for D own syndrome were investigated . P atients’ histories, o bservation, cytogenetic analysis of peripheral blood samples were analysed . Results: A mong 17835 liveborns during 5 years’ period, 128 were detected having at least 3 mm, calcu lated incidence of dysmorphia 0. 83% (1:139). Cytogenetic analysis was not per fo rmed in 3. 1% (4/128) due to immediate death or transfers elsewhere, 30.5% (39/128) were confirmed D own syndrome. Cytogenetic a nalysis showed trisomy 21 in 97.4%; R obertsonian translocation had one newborn (2. 6%); norm al cytogenetic structure had 66. 4% (85/ 128) of the newborns. Conclusons: O ther studies didn’t highlight th e proportion of phenocopies of D own syndrome in unselected population of newborns, mainly investigating sick children, disabled, or older - aged. As more the critical role of phenocopy emerg es, 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.

Item Type: Article
Subjects: Medical and Health Sciences > Clinical medicine
Divisions: Faculty of Medical Science
Depositing User: Elizabeta Zisovska
Date Deposited: 07 Jul 2015 12:49
Last Modified: 07 Jul 2015 12:49
URI: http://eprints.ugd.edu.mk/id/eprint/13513

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