Abstract
Originalsprog | Engelsk |
---|---|
Tidsskrift | Journal of Medical Genetics |
Vol/bind | 45 |
Udgave nummer | 11 |
Sider (fra-til) | 704-709 |
Antal sider | 5 |
ISSN | 0022-2593 |
DOI | |
Status | Udgivet - 2008 |
Bibliografisk note
Keywords: Child; Chromosome Aberrations; Chromosome Deletion; Comparative Genomic Hybridization; Cytogenetic Analysis; Female; Gene Dosage; Gene Duplication; Genome, Human; Heart Defects, Congenital; Humans; Infant; Infant, Newborn; Male; Oligonucleotide Array Sequence Analysis; PhenotypeAdgang til dokumentet
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High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease. / Erdogan, F; Larsen, Lars Allan; Zhang, L; Tümer, Z; Tommerup, N; Chen, W; Jacobsen, J R; Schubert, M; Jurkatis, J; Tzschach, A; Ropers, H-H; Ullmann, R.
I: Journal of Medical Genetics, Bind 45, Nr. 11, 2008, s. 704-709.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
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TY - JOUR
T1 - High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease
AU - Erdogan, F
AU - Larsen, Lars Allan
AU - Zhang, L
AU - Tümer, Z
AU - Tommerup, N
AU - Chen, W
AU - Jacobsen, J R
AU - Schubert, M
AU - Jurkatis, J
AU - Tzschach, A
AU - Ropers, H-H
AU - Ullmann, R
N1 - Keywords: Child; Chromosome Aberrations; Chromosome Deletion; Comparative Genomic Hybridization; Cytogenetic Analysis; Female; Gene Dosage; Gene Duplication; Genome, Human; Heart Defects, Congenital; Humans; Infant; Infant, Newborn; Male; Oligonucleotide Array Sequence Analysis; Phenotype
PY - 2008
Y1 - 2008
N2 - BACKGROUND: Congenital heart disease (CHD) is the most common birth defect and affects nearly 1% of newborns. The aetiology of CHD is largely unknown and only a small percentage can be assigned to environmental risk factors such as maternal diseases or exposure to mutagenic agents during pregnancy. Chromosomal imbalances have been identified in many forms of syndromic CHD, but very little is known about the impact of DNA copy number changes in non-syndromic CHD. METHOD: A sub-megabase resolution array comparative genome hybridisation (CGH) screen was carried out on 105 patients with CHD as the sole abnormality at the time of diagnosis. RESULTS: There were 18 chromosomal changes detected, which do not coincide with common DNA copy number variants, including one de novo deletion, two de novo duplications and eight familial copy number variations (one deletion and seven duplications). CONCLUSIONS: Our data show that submicroscopic deletions and duplications play an important role in the aetiology of this condition, either as direct causes or as genetic risk factors for CHD. These findings have immediate consequences for genetic counselling and should pave the way for the elucidation of the pathogenetic mechanisms underlying CHD.
AB - BACKGROUND: Congenital heart disease (CHD) is the most common birth defect and affects nearly 1% of newborns. The aetiology of CHD is largely unknown and only a small percentage can be assigned to environmental risk factors such as maternal diseases or exposure to mutagenic agents during pregnancy. Chromosomal imbalances have been identified in many forms of syndromic CHD, but very little is known about the impact of DNA copy number changes in non-syndromic CHD. METHOD: A sub-megabase resolution array comparative genome hybridisation (CGH) screen was carried out on 105 patients with CHD as the sole abnormality at the time of diagnosis. RESULTS: There were 18 chromosomal changes detected, which do not coincide with common DNA copy number variants, including one de novo deletion, two de novo duplications and eight familial copy number variations (one deletion and seven duplications). CONCLUSIONS: Our data show that submicroscopic deletions and duplications play an important role in the aetiology of this condition, either as direct causes or as genetic risk factors for CHD. These findings have immediate consequences for genetic counselling and should pave the way for the elucidation of the pathogenetic mechanisms underlying CHD.
U2 - 10.1136/jmg.2008.058776
DO - 10.1136/jmg.2008.058776
M3 - Journal article
C2 - 18713793
VL - 45
SP - 704
EP - 709
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
SN - 0022-2593
IS - 11
ER -