Basic Genetic Information

LIke ThisLIke ThisLIke ThisLIke ThisLIke This

To review briefly, chromosomes are packages of genetic information that we inherit from our parents. Chromosomes carry the instructions (genes) for our growth and development. Typically, each individual has 46 chromosomes that come in 23 pairs. One chromosome in each pair comes from the mother and the other comes from the father. The first 22 pairs are the same between men and women. The last pair determines our gender. Two X chromosomes makes someone female and an X and Y chromosome makes someone male. Any missing or extra genetic material generally results in incorrect development and function of an individual.

One way to think about chromosomes and genes is to use an analogy of an instruction manual. The manual contains the body's instructions for how to develop and function properly. The chromosomes are like the chapters in the manual and the genes are like the sentences in the manual.

There are many genes that are involved in making the heart form. Gene alterations (or mutations) are changes that cause the gene to stop working properly. If there is an alteration in a gene that is responsible for making the heart form, it is possible that the heart could form differently than expected. The result could be a small hole in the heart or a more complex type of congenital heart defect like tetralogy of Fallot.

Not only are there a large number of genes involved in making the heart form, researchers do not yet fully understand how the genes interact with each other. To explore a possible genetic origin to congenital heart defects, researchers must try to understand the role of each gene in the heart and also how the different genes interact.

Click here for additional information on DNA, genes, chromosomes and inheritance.

Request an Appointment

If this is a medical emergency, please dial 9-1-1. This form should not be used in an emergency.

Patient Information
Date of Birth:
Contact Information
Appointment Details
Send RequestIf you do not see the specialty you are looking for, please call us at: 617-355-6000.International visitors should call International Health Services at +1-617-355-5209.
Please complete all required fields

This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

Thank you.

Your request has been successfully submitted

You will be contacted within 1 business day.

If you have questions or would like more information, please call:

617-355-6000 +1-617-355-6000
close
Find a Doctor
Search by Clinician's Last Name or Specialty:
Select by Location:
Search by First Letter of Clinician's Last Name: *ABCDEFGHIJKLMNOPQRSTUVWXYZ
More optionsSearch
Condition & Treatments
Search for a Condition or Treatment:
Show Items Starting With: *ABCDEFGHIJKLMNOPQRSTUVWXYZ
View allSearch
Locations
The future of pediatrics will be forged by thinking differently, breaking paradigms and joining together in a shared vision of tackling the toughest challenges before us.”
- Sandra L. Fenwick, President and CEO
Close