Learn About Trisomy 13
Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year.
Most cases of trisomy 13 result from having three copies of chromosome 13 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 13.
Trisomy 13 occurs in about 1 in 16,000 newborns. Although women of any age can have a child with trisomy 13, the chance of having a child with this condition increases as a woman gets older.
Most cases of trisomy 13 are not inherited and result from random events during the formation of eggs and sperm in healthy parents. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 13. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 13 in each cell of the body.
Duke Birthing Center
"I can distinctly remember the awe and utter amazement I felt watching my first cesarean delivery. I knew that there was a baby inside the mother's abdomen, but it was amazing to see the doctors deliver it. To see it just ""pop out"". Still, to this day, I get that feeling of awe and amazement every time I help a mom deliver her baby. I feel so lucky to be part of such a wonderful moment in a family's life. As a maternal fetal medicine specialist, I take care of sick moms, sick babies, and sick pregnancies. Each day, while I get to help women and their families with big wins and happy moments, I also have the opportunity to help them through sad times and some of the worst moments of their lives. It is these hard and sad moments that make the happy ones even more meaningful. I also spend some of my time helping to teach medical students about Ob/Gyn. I really enjoy teaching, and sharing my love for Ob/Gyn with young learners is one of my favorite parts of my job. My other very important job is being a mom. I have three fantastic young boys that keep me busy and remind me on a daily basis how important family is. I love to swim and make jam. Apricot Jam is my favorite.". Dr. Dotters is rated as an Elite provider by MediFind in the treatment of Trisomy 13. Her top areas of expertise are Chromosome 13q Duplication, Trisomy 13, Trisomy 18, Hysterectomy, and Tubal Ligation.
Chih-ping Chen practices in Taiwan. Chen is rated as an Elite expert by MediFind in the treatment of Trisomy 13. Their top areas of expertise are Trisomy 14 Mosaicism, Trisomy 18, Hygroma Cervical, and Trisomy 13.
Antonin Sipek practices in Prague, Czech Republic. Mr. Sipek is rated as an Elite expert by MediFind in the treatment of Trisomy 13. His top areas of expertise are Chromosome 13q Duplication, Trisomy 13, Omphalocele, and Gastroschisis.
Summary: Purpose: Conduct a wait-list randomized controlled trial (RCT) of an inclusive physical activity program called PACE for adults with intellectual disability (ID) who are not yet showing signs of Alzheimer's Disease (AD)/age-related dementias (ARD). Participants: Participants include 120 adults with ID, their caregivers, and their coaches (up to 360 individual participants, grouped as triads), recr...
Published Date: September 09, 2021
Published By: National Institutes of Health