Trisomy 13 (Patau Syndrome): Symptoms, Causes & Outlook - Cleveland Clinic
Trisomy 13 (Patau syndrome) is a rare genetic condition when an extra copy of chromosome 13 attaches to a pair of chromosomes. Symptoms affect how the face, brain and heart develop, along with several other internal organs. Trisomy 13 symptoms are life-threatening and many cases result in a miscarriage or the baby passing away before turning 1.
Trisomy 13: Symptoms, Diagnosis, Treatment - WebMD
2023年10月18日 · Trisomy 13, sometimes called Patau syndrome, is a rare genetic condition that happens when babies have an extra 13th chromosome. Chromosomes in our cells carry DNA, which controls how...
Trisomy 13 | About the Disease | GARD - Genetic and Rare Diseases ...
A rare chromosomal anomaly characterized by the presence of extra chromosome 13 material and manifesting with severe intellectual disability and multiple congenital anomalies including holoprosencephaly, microcephaly, microphthalmia, scalp defect, cleft lip/palate, congenital heart defects, and postaxial polydactyly.
Chromosome 13 - Wikipedia
Chromosome 13 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 13 spans about 113 million base pairs (the building material of DNA) and represents between 3.5 and 4% of the total DNA in cells.
Trisomy 13: MedlinePlus Genetics
Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body.
Patau Syndrome - StatPearls - NCBI Bookshelf
2023年6月26日 · Patau syndrome, also called trisomy 13, is a clinical syndrome that occurs when all or some cells of the body contain an extra copy of chromosome 13. It is characterized by cleft lip, cleft palate, cerebral defects, anophthalmia, simian creases, polydactyly, trigger thumbs, and capillary hemangiomata.
Trisomy 13 - StatPearls - NCBI Bookshelf - National Center for ...
2023年8月13日 · Trisomy 13 is a chromosomal aneuploidy originally described by Patau et al. in 1960. The occurrence of trisomy 13 is 1 in 10,000 to 20,000 live births with antenatal mortality of over 95% of gestations. It can occur as complete, partial, or mosaic expression. The complete trisomy is the most common presentation representing about 80% of all ...
Patau's syndrome - NHS
Patau's syndrome is a serious, rare genetic disorder caused by having an additional copy of chromosome 13 in some or all of the body's cells. It's also called trisomy 13. Each cell normally contains 23 pairs of chromosomes, which carry the genes you inherit from your parents.
Trisomy 13: MedlinePlus Medical Encyclopedia
Trisomy 13 (also called Patau syndrome) is a genetic disorder in which a person has 3 copies of genetic material from chromosome 13, instead of the usual 2 copies. Rarely, the extra material may be attached to another chromosome (translocation).
GARD Rare Disease Information - Trisomy 13 - National …
Trisomy 13 is a type of chromosome disorder characterized by having 3 copies of chromosome 13 in cells of the body, instead of the usual 2 copies.