Trisomy 13 Syndrome
"Trisomy 13 Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 13. Clinical manifestations include CONGENITAL HEART DEFECTS (e.g., PATENT DUCTUS ARTERIOSUS), facial malformations (e.g., CLEFT LIP; CLEFT PALATE; COLOBOMA; MICROPHTHALMIA); HYPOTONIA, digit malformations (e.g., POLYDACTYLY or SYNDACTYLY), and SEIZURES and severe INTELLECTUAL DISABILITY associated with NERVOUS SYSTEM MALFORMATIONS.
Descriptor ID |
D000073839
|
MeSH Number(s) |
C10.597.606.643.835 C14.240.400.970 C14.280.400.970 C16.131.077.919 C16.131.240.400.965 C16.131.260.923 C16.320.180.923
|
Concept/Terms |
Trisomy 13 Syndrome- Trisomy 13 Syndrome
- Patau's Syndrome
- Pataus Syndrome
- Bartholin-Patau Syndrome
- Bartholin Patau Syndrome
- Chromosome 13 Trisomy Syndrome
- Trisomy 13 Syndromes
- Patau Syndrome
|
Below are MeSH descriptors whose meaning is more general than "Trisomy 13 Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Trisomy 13 Syndrome".
This graph shows the total number of publications written about "Trisomy 13 Syndrome" by people in this website by year, and whether "Trisomy 13 Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
Year | Major Topic | Minor Topic | Total |
---|
2013 | 0 | 1 | 1 | 2020 | 0 | 1 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Trisomy 13 Syndrome" by people in Profiles.
-
Palomaki GE, Wyatt P, Best RG, Lepage N, Ashwood ER, Souers RJ, Thorson JA. Assessment of laboratories offering cell-free (cf) DNA screening for Down syndrome: results of the 2018 College of American Pathology External Educational Exercises. Genet Med. 2020 04; 22(4):777-784.
-
Hutaff-Lee C, Cordeiro L, Tartaglia N. Cognitive and medical features of chromosomal aneuploidy. Handb Clin Neurol. 2013; 111:273-9.
|
People People who have written about this concept. _
Similar Concepts
People who have written about this concept.
_
Top Journals
Top journals in which articles about this concept have been published.
|