New trends in chromosomal investigation in children with cardiovascular malformations
| Autor: | Gesa Schwanitz, Ruth Schellberg, Detlef Trost, Rolf Kallenberg, Walter Wiebe, Lutz Grävinghoff, Ruth Raff |
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| Rok vydání: | 2004 |
| Předmět: |
Chromosome Aberrations
Heart Defects Congenital Male Pediatrics medicine.medical_specialty business.industry Genetic counseling Karyotype General Medicine Telomere Subtelomere Genetic Techniques In situ hybridisation Pediatrics Perinatology and Child Health Humans Medicine Female Cardiovascular malformations In patient Chromosome Deletion Child Cardiology and Cardiovascular Medicine business In Situ Hybridization Fluorescence |
| Zdroj: | Cardiology in the Young. 14:622-629 |
| ISSN: | 1467-1107 1047-9511 |
| Popis: | We investigated a group of 376 children, seen over a period of 7 years with different types of congenital cardiovascular defects, to assess the presence of chromosomal aberrations. The diagnostic approach, achieved in 3 consecutive steps, revealed conventional chromosomal aberrations in 30 of the patients (8%) excluding trisomies 13, 18, 21. Fluorescence in situ hybridisation for microdeletions showed 51 microdeletions (15%), with 43 patients having deletions of 22q11.2, 7 patients with deletion of 7q11.23, and 1 patient with deletion of 4p16.3. In 23 patients with additional clinical abnormalities, we carried out a subtelomeric screening. This revealed, in two cases (9%), different subtelomeric aberrations, namely deletions of 1p and of 1q. Thus, subtelomeric screening proved to be a very valuable as a new diagnostic approach. Our approach to genetic investigation in three phases makes it possible to detect a high rate of pathologic karyotypes in patients with congenital cardiovascular malformations, thus guaranteeing more effective genetic counselling of the families, and a more precise prognosis for the patient. |
| Databáze: | OpenAIRE |
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