A 2-week-old male presents with tetralogy of Fallot, cleft palate, and recurrent candidal infections. Vital signs show HR 158/min, RR 42/min, SpO2 88% on room air, and temperature 37.2°C. Laboratory studies reveal lymphocyte count of 800/μL (normal >1500/μL). Standard karyotyping is normal. Thymic shadow is absent on chest X-ray. Which chromosomal abnormality detection method most rapidly confirms the suspected microdeletion syndrome?
- A)Southern blot
- B)Northern blot
- C)ELISA
- D)Fluorescence in situ hybridizationGABARITO
- E)Western blot
Explicação
DiGeorge syndrome is often caused by a 22q11 microdeletion that may be too small to detect on routine karyotype. Fluorescence in situ hybridization uses fluorescent DNA probes to detect specific chromosomal sequences and is a classic method for identifying mic... Ver explicação completa e trilha adaptativa →