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: | https://eprints.ugd.edu.mk/id/eprint/13513 |
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