Trisomy 13Symptoms, Doctors, Treatments, Advances & More
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 Perinatal Consultants Of Cary
Sarah Dotters-Katz is a Neonatologist and an Obstetrics and Gynecologist practicing medicine in Cary, North Carolina. Dr. Dotters-Katz is rated as an Elite provider by MediFind in the treatment of Trisomy 13. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses Trisomy 13, Chromosome 13q Duplication, Trisomy 18, Hysterectomy, and Tubal Ligation. Dr. Dotters-Katz is board certified in American Board Of Obstetrics/Gynecology, Obstetrics & Gynecology and American Board Of Preventative Medicine, Maternal & Fetal Medicine. Dr. Dotters-Katz is currently accepting new patients.
Chih-ping Chen practices practicing medicine in Taiwan. Chen is rated as an Elite expert by MediFind in the treatment of Trisomy 13. They are also highly rated in 124 other conditions, according to our data. Their clinical expertise encompasses Trisomy 14 Mosaicism, Trisomy 2 Mosaicism, Chromosome 13q Duplication, and Mosaic Trisomy 7.
Sequenom Center For Molecular Medicine LLC
Nilesh Dharajiya is a Medical Genetics provider practicing medicine in San Diego, California. Dr. Dharajiya is rated as an Elite provider by MediFind in the treatment of Trisomy 13. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Chromosome 13q Duplication, Trisomy 13, Trisomy 18, and Tissue Biopsy.
Summary: The goal of the ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) study is to compare the concordance of results of a novel non-invasive circulating fetal cell (CFC) assay to the results of prenatal invasive diagnostic testing or postnatal genetic and clinical diagnosis of the resulting neonate. This is a prospective study of pregnant individuals.
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