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Chromosomal Rearrangement

Chromosomal rearrangement is a chromosome abnormality that involves a change in the structure of the native chromosome. Individuals with chromosome rearrangements are at increased risk to produce abnormal embryos. Genesis Genetics uses state-of-the-art technology to analyze embryo biopsies for chromosome abnormalities.

Balanced Translocations and Inversions

By definition, a chromosomal rearrangement is a chromosome abnormality that involves a change in the structure of the native chromosome. Individuals with chromosome rearrangements, such as balanced translocations or inversions, are at increased risk to produce chromosomally abnormal embryos. Genesis Genetics uses state-of-the-art technology to analyze embryo biopsies for chromosome abnormalities related to an individual’s specific rearrangement.

Each chromosome rearrangement case is thoroughly reviewed and analyzed by our team of genetic specialists. Patients have the option to speak with one of our genetic counselors about the specifics of their case prior to and/or following their embryo analysis.

Inversions 

Imagine the following strand of letters represents a chromosome that contains some of your genetic makeup: ABCDEFG. Now, what would happen if we took a small portion of this strand, say, “EFG,” and flipped it 180 degrees? The strand would now read, ABCDGFE. This occurrence is known as an inversion, which is a type of rearrangement where some of the chromosome is rotated, but is still located in the same spot.

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Translocations

A translocation arises when there is an exchange of material between two chromosomes. Specifically, a break occurs in two different chromosomes, and the two chromosome pieces that broke off switch positions. Translocations can be inherited or can occur spontaneously. A large majority of translocation carriers are healthy and are unaware of their carrier status until they try to have children. There are two types of common chromosomal translocations that can arise:

  1. Reciprocal translocation – Occurs when two pieces of genetic material break off from two different chromosomes and swap places. Patients that carry a balanced translocation can have offspring that have either the same balanced translocation, the unbalanced form of the translocation (where there is a gain or loss of chromosomal material), or a completely normal set of chromosomes.Reciprocal_Translocation300
  2. Robertsonian translocation – Occurs when two chromosomes join together to form one large chromosome. This results in a total chromosome count of 45 instead of 46. This pairing occurs most commonly between chromosome numbers 13 with 14 and 14 with 21, and usually results in conditions such as Translocation Down syndrome, trisomy 13, or uniparental disomy (UPD).

What People Are Saying

  • Abington IVF & Genetics has been using Genesis Genetics for our PGD/PGS cases for over 16 years. Customer service has been top quality. If we have questions regarding anything from procedures to shipping they answer our questions promptly and are always very friendly and willing to help. Patients are anxious to receive their results and Genesis Genetics has the results ready in a timely fashion. Our patients have been happy with their counseling services and our practice appreciates their professionalism.

    Scott E. Smith, PhD, HCLDAbington IVF & Genetics
  • Our centers in California and in Utah have been clients of Genesis since those early FISH beginnings.  While the number of laboratories offering PGS/PGD has since exploded, Genesis has, through unabated integrity, remained our PGS/PGD gold standard.  In response to our endless unreasonable questions at unreasonable hours, Genesis staff have remained perennially patient, professional and always enlightening.

    Bronte A. Stone, MAgSc, PhD (Med), HCLD (ABB)Director of Laboratories, California Fertility Partners
  • Our clinic has partnered with Genesis Genetics for over 5 years and in that time we have discovered a dedicated team of professionals willing to go the extra mile for us AND our patients.  Their customer service and compassion-focused approach to providing a valuable service is second-to-none. We are honored to partner with such a wonderful company!

    Susan Walker, ELS (AAB), MT (AAB)Embryologist, Fertility Center, LLC
  • My twin girls (Ellie and Kaya Schneider) are 7 years old this last Feb. Time flies. I'm still determined at some point in time to come to Detroit and meet you in person so I can shake your hand. I read a recent article from someone talking about how "test tube babies" don't turn out the same as regular babies mentally, etc. I wished I could have sent the author both my daughters school updates and let this lady know that both my girls are in the accelerated math and reading classes...probably doing better than the author's kids. Anyways, hope you are doing well and continuing to help so many families like you did for us 8 years ago!

    Mike & DannitPGS Patients
  • I wanted to share the wonderful news with you and your team that my husband Brett and I welcomed our baby girl, Charlotte Poppy, on February 11, 2016! We waited to find out the gender and were so very happily surprised to find out we had a little girl! She was 6.1 lbs. and 18.5 inches long when she was born, and was already 8.3 lbs. and 21 inches long at her 1-month appointment! We are so in love with her and are so grateful for what you all do to make this little miracle possible.

    MeganPGS Patient
  • We just wanted to thank everyone that worked on our case, and to let them know that on this past Saturday, April 30, 2011, thanks to Genesis Genetics and RMA of New Jersey, we had a beautiful daughter named Khloe. She is 8 lbs., 3 oz., and healthy. Photos to follow soon. Please thank everyone that worked on our case—words cannot express how grateful Hanna and I feel. Thank you for everything that you all do day after day.

    Kevin & HannaPGS Patients
  • While doing routine blood work for IVF, my husband and I were shocked to learn that we are both carriers for cystic fibrosis. We were so grateful to learn about Genesis Genetics and used Preimplantation Genetic Diagnosis. Words cannot express how joyful my husband and I are to have conceived two healthy girls, free from the dangers of this serious disease. Dr. Hughes and his staff were available to answer all of our questions and helped us when we were anxious during the process. We are so in love with our girls. Their health is a gift that we received from the team at Genesis Genetics.

    LauraPGD Patient

Any Questions?

To speak with a Genesis representative, please reach out via phone or email.

Contact Us

Genesis Genetics welcomes the opportunity to discuss our services—and your specific situation—in more detail. Send us an email and we'll get back to you ASAP.

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