trisomy 13


Also found in: Thesaurus, Medical, Encyclopedia, Wikipedia.
Related to trisomy 13: Trisomy 18, Trisomy 8

trisomy 13

n.
The condition of having three copies of chromosome 13 that results in a syndrome characterized by severe congenital malformations including craniofacial and cardiac defects, structural brain abnormalities, and polydactyly. Also called Patau syndrome.
Mentioned in ?
References in periodicals archive ?
Furthermore, another unusual case report found (upon substantive clinical follow-up) that the source of a trisomy 13 and monosomy 18 false-positive NIPT result ultimately was due to a metastatic tumor in the mother (25).
However, a subset may survive to the newborn period and beyond, including Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), and Trisomy 13 (Patau syndrome).
Support Organization For Trisomy 13, 18 and related disorders) is a nonprofit organization offering support for parents who have had a child with a chromosome disorder, and education for families and professionals interested in the care of these children.
This was mainly because of the advantages associated with NIPTs such as safety, accuracy, and no risk of miscarriage during the genetic screening test for common chromosomal abnormalities (trisomy 21, trisomy 18, trisomy 13, monosomy X, etc.
The secondary endpoint was a similar comparison of detection rates for trisomy 13 (Patau syndrome).
An NIPT is a non-invasive genetic screening test for the common chromosomal abnormalities (trisomy 21, trisomy 18, trisomy 13, monosomy X, etc.
For this reason, specific approaches have been used to normalize the GC ratios for chromosome 13, which have resulted in increased sensitivity of detection of trisomy 13 (22, 41).
In rare cases, a fetus with trisomy 13 (Patau syndrome) can survive.
S Our daughter has partial trisomy 13 which has resulted in a speech and motor delay and some developmental delay.
Data from Additional Patients Confirms High Accuracy in Detection of Trisomy 13, Trisomy 18, Trisomy 21, Sex Chromosome Abnormalities
ATLANTA, July 28, 2015 /PRNewswire/ -- SeraCare Life Sciences, a leading partner to global in vitro diagnostics manufacturers, announced today at the American Association of Clinical Chemistry (AACC) meeting that it has signed a licensing agreement with the University of California, San Francisco (UCSF) for the use of Trisomy 21 (T21), Trisomy 18 (T18) and Trisomy 13 (T13) trophoblast cell line material as a component for creating "patient-like" reference materials for Non-Invasive Prenatal Testing (NIPT) of chromosomal abnormalities.