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- W2187601384 abstract "Congenital heart defects (CHD) are among the most c ommon types of major birth defects; the common causes of CHD are chromosomal abnormalities when CH D associate multiple congenital anomalies (MCA). We performed a retrospective study, with the purpose o f establishing the benefits of genetic tests in etiological dia- gnostic and to estimate the frequency and the types of chromosomal abnormalities, in 1123 patients wit h MCA who were clinically and cytogenetically evaluated d uring the period of 2000-2010 in Iai Medical Genetics Cen- ter. CHD were present in 232 (30.49%) out of 761 pa tients with chromosomal abnormalities; CHD were mor e frequent in 22q11.2 microdeletion (6/7 cases or 85. 71%), 18 trisomy (9/15 cases or 60%), 21 trisomy (1 77/558 cases or 31.72%) and X monosomy (11/74 cases or 14. 86%). We detected chromosomal abnormalities in 232 (72.04%) out of 322 cases with CHD. Septal defects and patent ductus arteriosus (PDA), of all types of CHD, were more frequently associated with a chromosomal abnormality. Our study proved the benefits of cytog enetic testing in diagnosis of CHD and MCA cases. When st andard chromosome analysis shows a normal karyotyp e, molecular cytogenetic techniques are useful to dete ct submicroscopic chromosomal abnormalities." @default.
- W2187601384 created "2016-06-24" @default.
- W2187601384 creator A5032671967 @default.
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- W2187601384 date "2012-01-01" @default.
- W2187601384 modified "2023-09-27" @default.
- W2187601384 title "Benefits of cytogenetic testing in diagnosis of plurimalformative syndromes with congenital heart defects Beneficiile test ării citogenetice în diagnosticul sindroamelor plurimalformative cu afec Ńiuni cardiace congenitale Monica Pânzaruπ, Cristina Rusuπ, Mihail Volociuc≤, Elena Brahaπ, Lăcramioara Butnariuπ, Mihaela Gramescuπ, Roxana Popescuπ, Lavinia Cabaπ * ," @default.
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- W2187601384 hasPublicationYear "2012" @default.
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