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

Zisovska, Elizabeta (2013) The Importance of Down Syndrome Phenocopies in the Newborns in Tertiary Obstetric Hospital. Macedonian Journal of Medical Sciences, 15 (6(4)). pp. 370-375. ISSN 1857-5773

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Abstract

Background: A phenotype is the composite 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 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.
Results: 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.
Conclusons: 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.

Item Type: Article
Subjects: Medical and Health Sciences > Clinical medicine
Divisions: Faculty of Medical Science
Depositing User: Elizabeta Zisovska
Date Deposited: 07 Jul 2015 12:33
Last Modified: 07 Jul 2015 12:33
URI: https://eprints.ugd.edu.mk/id/eprint/13559

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