Which investigation has been performed here to diagnose Edward syndrome?
Correct Answer: FISH
Description: - Fluorescent in situ hybridization (FISH)- molecular cytogenetic technique that uses fluorescent probes to test for the presence or absence of specific chromosome regions. - Trisomy 18 ( Edwards Syndrome ) ( Mnemonic--ROCKY MOUNTAIN) * Rocker bottom foot * Overlapping fingers * Cardiac defects * Kidney malformations * MicrocephalY * Mental retardation Patau syndrome- Trisomy13 Down syndrome- Trisomy21 Turner's syndrome- monosomy X0
Category:
Pediatrics
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