Skip to search form
Skip to main content
Skip to account menu
Semantic Scholar
Semantic Scholar's Logo
Search 238,215,478 papers from all fields of science
Search
Sign In
Create Free Account
Trisomy
Known as:
Chromosomal Triplication
, Trisomy [Disease/Finding]
, Chromosomal Triplications
Expand
The presence of an extra chromosome, resulting in a total of three copies of that chromosome instead of the normal 2 copies (e.g., trisomy 21, or…
Expand
National Institutes of Health
Create Alert
Alert
Related topics
Related topics
50 relations
Narrower (42)
6q+ Syndrome, Partial
Chromosome 1, trisomy 1q32 qter
Chromosome 1, uniparental disomy 1q12 q21
Chromosome 10, trisomy 10p
Expand
Chromosomal Duplication
History of Trisomy 21:Finding:Point in time:^Patient:Narrative
Triploidy syndrome
Trisomy 13 risk:Likelihood:Pt:^Fetus:Qn
Expand
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
1987
Review
1987
Clinical manifestations of trisomy 5q.
Dhavendra Kumar
,
Paul R. Heath
,
C. Blank
Journal of Medical Genetics
1987
Corpus ID: 24547814
A patient with a small deletion of the short arm and a partial duplication of the long arm of chromosome 5 is described. The main…
Expand
1983
1983
Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q.
N. Pratt
,
D. Bulugahapitiya
Journal of Medical Genetics
1983
Corpus ID: 42320739
A newborn child with an unusual facial appearance and multiple abnormalities was found to be trisomic for a large part of 12q as…
Expand
Review
1981
Review
1981
Epidemiology of trisomy 21: population, peri- and antenatal data.
Margareta Mikkelsen
Human genetics. Supplement
1981
Corpus ID: 33672935
In Down's syndrome, incidence of 1 0/00-2 0/00 have been reported in chromosomal surveys of consecutive liveborn infants and in…
Expand
Review
1981
Review
1981
Partial trisomy 12q: report of a case and review.
S. Roberts
,
T. Mattina
,
K. Laurence
,
G. Sorge
,
L. Pavone
Journal of Medical Genetics
1981
Corpus ID: 37296013
A malformed male infant with pure partial trisomy 12q (q24.1 leads to qter), resulting from an unbalanced segregation of a…
Expand
1981
1981
Partial trisomy 12q.
B. Zabel
,
W. Baumann
Journal of Medical Genetics
1981
Corpus ID: 28998627
A partial trisomy 12q243 leads to qter resulting from a maternal balanced translocation, 46,XX,t(9;12)(p243;q243) was detected in…
Expand
1979
1979
Trisomy of chromosome No 13 in spontaneous mammary tumors of GR, C3H, and noninbred Swiss mice.
Ryuichi Dofuku
,
Tadashi Utakoji
,
Akio Matsuzawa
Journal of the National Cancer Institute
1979
Corpus ID: 36715187
Karyotype analyses were conducted on spontaneous mammary tumors of 11 GR, 2 C3H, and 2 noninbred Swiss mice with the use of…
Expand
Highly Cited
1977
Highly Cited
1977
The repair of X-ray induced chromosomal damage in trisomy 2-and normal diploid lymphocytes.
Paul I. Countryman
,
J. Heddle
,
E. Crawford
Cancer Research
1977
Corpus ID: 20653376
The frequency of chromosomal aberrations produced by X-rays is greater in lymphocytes cultured from trisomy 21 patients (Down's…
Expand
Highly Cited
1975
Highly Cited
1975
Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21).
P. Allderdice
,
N. Browne
,
D. P. Murphy
American Journal of Human Genetics
1975
Corpus ID: 43475901
Close phenotypic similarity between two cases carrying a rec(3) dup q,inv(3) (p25q21), 12 additional infants from the same inv (3…
Expand
1973
1973
Partial Trisomy of the Long Arm of Chromosome No. 7
O. Alfi
,
G. Donnell
,
Sandra L. Kramer
Journal of Medical Genetics
1973
Corpus ID: 3036510
A case report on an infant with trisomy of the distal third of the long arm of chromosome No. 7 is presented.
1966
1966
Hematologic changes in the D1 trisomy syndrome.
S. Walzer
,
P. S. Gerald
,
Germaine Breau
,
D. O'Neill
,
L. Diamond
Pediatrics
1966
Corpus ID: 46660167
A propositus was presented manifesting the clinical picture of the D1 syndrome and demonstrating the chromosomal findings of a D…
Expand