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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