Could submicroscopical chromosomal imbalances cause cono-truncal malformations in twins?
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Could submicroscopical chromosomal imbalances cause cono-truncal malformations in twins? / Jensen, Henrik; Kjeldsen, Eigil; Hjortdal, Vibeke E.
I: Congenital Heart Disease, Bind 7, Nr. 2, 02.07.2011, s. 170-7.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Could submicroscopical chromosomal imbalances cause cono-truncal malformations in twins?
AU - Jensen, Henrik
AU - Kjeldsen, Eigil
AU - Hjortdal, Vibeke E
N1 - © 2011 Wiley Periodicals, Inc.
PY - 2011/7/2
Y1 - 2011/7/2
N2 - The course of normal heart formation in the embryo has been known for decades, but little is known about the genes that control its development. To further improve our understanding of the molecular and genetic mechanisms involved in congenital heart disease, we screened for submicroscopic chromosomal aberrations using bacterial artificial chromosome-based array comparative genomic hybridization analysis in two Danish twin pairs, one pair of monozygotic twins with tetralogy of Fallot, and one twin pair of unknown zygosity with pulmonary valve stenosis. We did not find any major chromosome defects, although a number of submicroscopic copy number variations were present. The question of whether these submicroscopic chromosomal imbalances alone or in conjunction with unknown intrauterine factors causes the observed cono-truncal malformations remains unanswered.
AB - The course of normal heart formation in the embryo has been known for decades, but little is known about the genes that control its development. To further improve our understanding of the molecular and genetic mechanisms involved in congenital heart disease, we screened for submicroscopic chromosomal aberrations using bacterial artificial chromosome-based array comparative genomic hybridization analysis in two Danish twin pairs, one pair of monozygotic twins with tetralogy of Fallot, and one twin pair of unknown zygosity with pulmonary valve stenosis. We did not find any major chromosome defects, although a number of submicroscopic copy number variations were present. The question of whether these submicroscopic chromosomal imbalances alone or in conjunction with unknown intrauterine factors causes the observed cono-truncal malformations remains unanswered.
KW - Chromosome Aberrations
KW - Comparative Genomic Hybridization
KW - Echocardiography
KW - Gene Dosage
KW - Humans
KW - Infant, Newborn
KW - Male
KW - Pulmonary Valve Stenosis/diagnostic imaging
KW - Tetralogy of Fallot/diagnostic imaging
KW - Truncus Arteriosus/abnormalities
KW - Twins
KW - Twins, Monozygotic
U2 - 10.1111/j.1747-0803.2011.00544.x
DO - 10.1111/j.1747-0803.2011.00544.x
M3 - Journal article
C2 - 21718456
VL - 7
SP - 170
EP - 177
JO - Congenital Heart Disease
JF - Congenital Heart Disease
SN - 1747-079X
IS - 2
ER -
ID: 242712283