Now That Small Molecular-Level Deletions and Subtle Chromosomal Rearrangements Can

question 47

Essay

Now that small molecular-level deletions and subtle chromosomal rearrangements can be discovered using advanced cytogenetic techniques and microarrays, disorders whose causes had
not previously been known can have their basis identified. However, since most of these are not widely publicized, being individually rare, it has been difficult to identify patients with shared chromosomal abnormalities who share phenotypic features. A new database, known as DECIPHER, is now available to search for patients with like phenotypes and/or like chromosomal abnormalities. If you are the clinical geneticist who has a patient whose data is entered into this database, suggest three or more ways using this database can benefit your patient or your field in general.

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Definitions:

Fixed Overhead

Costs that do not vary with the level of production or sales, including rent, salaries, and insurance, ensuring the basic operational capability of a business.

Standard Cost

A predetermined or estimated cost of performing an operation or producing a good, used in budgeting and cost management.

Direct Labor-Hours

The total hours worked by employees directly involved in the manufacturing process or providing a service, used in calculating labor costs.

Inventory Accounts

Inventory accounts are financial accounts used to track the quantities and costs of products a company holds for sale in the normal course of business.