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Chromosome 18, tetrasomy 18p

Known as: Tetrasomy 18p, 18p Tetrasomy, 18p Isochromosome 
National Institutes of Health

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Broader (2)

AneuploidyChromosomes, Human, Pair 18

Papers overview

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2015
2015
Tetrasomy 18p: Report of cognitive and behavioral characteristics
Our purpose was to describe intellectual and behavioral characteristics of persons with tetrasomy 18p. This is a more detailed… 
2011
2011
A rare chromosomal disorder - isochromosome 18p syndrome.
BACKGROUND Tetrasomy 18p is a very rare chromosomal disorder and is the result of a spontaneous mutation early in embryonic… 
Review
2010
Review
2010
Tetrasomy 18p: Report of the molecular and clinical findings of 43 individuals
Thus far, the phenotype of tetrasomy 18p has been primarily delineated by published case series and reports. Findings reported in… 
2006
2006
Postzygotic isochromosome formation as a cause for false‐negative results from chorionic villus chromosome examinations
To investigate the origin and mechanisms of formation of isochromosomes 13q and 21q in instances where prenatal chromosome… 
2004
2004
Myelodysplastic syndrome (RARS) with +i(12p) abnormality in a patient 10 months after diagnosis and successful treatment of a mediastinal germ cell tumor (MGCT)
We report on a 21-year-old man with a mediastinal germ cell tumor (MGCT) who developed a myelodysplastic syndrome (MDS… 
2003
2003
Prenatal diagnosis of tetrasomy 18p using multiplex fluorescent PCR and comparison with a variety of techniques.
We report genetic characterization of isochromosome 18p using a combination of cytogenetic and molecular genetic methods… 
2000
2000
Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin.
Structural abnormalities of chromosome 18p mainly consist of isochromosomes of the short arm, which result in tetrasomy 18p… 
1990
1990
Tetrasomy 18p in a child with trisomy 18 phenotype.
We report on a patient with trisomy 18 syndrome and tetrasomy 18p. The case indicates that the presence of an isochromosome i(18p… 
1986
1986
Mosaicism of isochromosome 18p. Cytogenetic and morphological findings in a male fetus at 21 weeks.
The first case of isochromosome 18p as a mosaic in a male fetus diagnosed by amniocentesis is reported. After termination of the… 
1986
1986
Mosaicism of isochromosome 18p.
The first case of isochromosome 18p as a mosaic in a male fetus diagnosed by amniocentesis is reported. After termination of the… 
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