A 2-year-old girl presents with global developmental delay, intellectual disability, and multiple congenital anomalies including cardiac defects. Vital signs are stable (BP 95/60, HR 110, RR 24, Temp 37°C). Standard karyotype and targeted FISH studies are normal. Laboratory studies show no metabolic abnormalities. Her geneticist seeks an unbiased, genome-wide method to detect submicroscopic deletions and duplications across all chromosomes without prior knowledge of specific loci. Which test is most appropriate?
- A)Restriction fragment length polymorphism analysis only
- B)Western blot
- C)Sanger sequencing of mitochondrial DNA only
- D)Serum protein electrophoresis
- E)Comparative genomic hybridization microarrayGABARITO
Explicação
Comparative genomic hybridization microarray can detect copy number gains and losses across the genome, making it useful for unexplained developmental delay when submicroscopic deletions or duplications are suspected. Unlike targeted FISH, it does not require ... Ver explicação completa e trilha adaptativa →