Use of molecular karyotyping in pediatrics

作者：Spengler S; Begemann M; Eggermann K; Zerres K; Bruechle N Ortiz; Seidel H; Rudnik Schoeneborn S; Eggermann T^*

来源：Monatsschrift Kinderheilkunde, 2013, 161(7): 633-641.

DOI：10.1007/s00112-013-2893-8

• Microarray analysis
• Karyotyping, molecular
• Mental retardation
• Chromosomal aberration
• Cytogenetics

The use of microarray-based high-resolution molecular karyotyping has significantly improved genetic diagnostics in children with congenital disabilities. The high resolution of this technique leads to an increase in the detection rate from 10 % in conventional cytogenetic diagnostics to 20 % for chromosomal imbalances (e.g., deletions) in patients with mental retardation and other abnormalities. The application of molecular karyotyping has changed the diagnostic algorithms in cases of suspicious chromosomal abnormality, in that the new method is increasingly replacing conventional cytogenetics, at least if no known chromosomal syndrome (e.g., Down syndrome or Ullrich-Turner syndrome) is expected. Although array-based molecular karyotyping leads to a higher detection rate of chromosomal imbalances, it is not suitable for the detection of balanced chromosomal rearrangements, pointing towards a potentially transmittable chromosome aberration, e.g., reciprocal translocation or inversion. For this purpose conventional cytogenetic analysis remains the method of choice. It should also be mentioned that the currently available data do not allow prediction of the clinical utility and validity of every detected chromosomal variant. Furthermore, guidelines about how to deal with incidental findings are still not available. Given these challenges in interpretation and mediation of array results, close case-related collaboration of pediatricians and human geneticists is mandatory. This ensures an optimal support - within the frame of the Genetic Diagnosis Act - for the patients and their families.

• 出版日期2013-7