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Trisomy

Known as: Chromosomal Triplication, Trisomy [Disease/Finding], Chromosomal Triplications 
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… 
National Institutes of Health

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Narrower (42)

6q+ Syndrome, PartialChromosome 1, trisomy 1q32 qterChromosome 1, uniparental disomy 1q12 q21Chromosome 10, trisomy 10p
Chromosomal DuplicationHistory of Trisomy 21:Finding:Point in time:^Patient:NarrativeTriploidy syndromeTrisomy 13 risk:Likelihood:Pt:^Fetus:Qn

Papers overview

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Highly Cited
1995
Highly Cited
1995
Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype.
et al,5 respectively. To identify the IVS 1 (-13T-*G) mutation, two PCR primer sets were designed, based on the amplification… 
1994
1994
Partial trisomy 3q causing mild Cornelia de Lange phenotype.
A brother and sister are reported with developmental delay and facial features suggestive of the Cornelia de Lange syndrome… 
Review
1987
Review
1987
Clinical manifestations of trisomy 5q.
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… 
Review
1981
Review
1981
Epidemiology of trisomy 21: population, peri- and antenatal data.
In Down's syndrome, incidence of 1 0/00-2 0/00 have been reported in chromosomal surveys of consecutive liveborn infants and in… 
1979
1979
Trisomy of chromosome No 13 in spontaneous mammary tumors of GR, C3H, and noninbred Swiss mice.
Karyotype analyses were conducted on spontaneous mammary tumors of 11 GR, 2 C3H, and 2 noninbred Swiss mice with the use of… 
1978
1978
Partial trisomy for short and long arm of chromosome no. 5: Two cases of two possible syndromes.
We report 2 patients from different families with malformation-retardation syndromes caused by a partial trisomy of the long and… 
Highly Cited
1977
Highly Cited
1977
The repair of X-ray induced chromosomal damage in trisomy 2-and normal diploid lymphocytes.
The frequency of chromosomal aberrations produced by X-rays is greater in lymphocytes cultured from trisomy 21 patients (Down's… 
1977
1977
Partial trisomy 7p associated with familial 7p;22q translocation.
A newly described partial trisomy of the short arm of chromosome number 7 is reported in a familial translocation between 7 and… 
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).
Close phenotypic similarity between two cases carrying a rec(3) dup q,inv(3) (p25q21), 12 additional infants from the same inv (3… 
1966
1966
Hematologic changes in the D1 trisomy syndrome.
A propositus was presented manifesting the clinical picture of the D1 syndrome and demonstrating the chromosomal findings of a D…