Chromosome Region 22q11.2 Deletion and Duplication Analysis in Amniotic Fluid or Chorionic Villus Sample by FISH

**Semantic type:** Laboratory Procedure

**Definition:** A fluorescent in situ hybridization-based procedure that detects chromosome region 22q11.2 deletions and/or duplications in an amniotic fluid or chorionic villus specimen.

**Synonyms:** - Chromosome region 22q11.2 deletion and duplication mutation analysis in Amniotic fluid or Chorionic villus sample by FISH