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[Music] this short video focuses on several syndromes due to missing or extra pieces of dna we hope that parents find this helpful in understanding their childs genetic condition as an introduction lets think of genes or units of dna like being recipes arranged in a cookbook we get a set of 23 cookbooks or chromosomes from our mothers and a set of 23 cookbooks or chromosomes from our fathers a missing or extra page in our cookbook or chromosome is called a copy number variant some copy number variants may cause a medical problem many do not understanding that difference is the work of a geneticist a geneticist is a doctor who can diagnose give advice on what to expect coordinate ongoing care and help test other family members you might be wondering how a child receives a diagnosis well small blood or saliva sample from the child is used in a chromosomal microarray analysis or cma where its organized and inventory to detect any missing or extra pieces of dna kind of like looking thro
