Chromosome 18, trisomy 18p

Known as: Duplication 18p, Trisomy 18p 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1988-2015
0119882015

Papers overview

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Review
2015
Review
2015
Complete, isolated trisomy of the short arm of chromosome 18 is very rare. To date, only 24 cases of trisomy 18p have been… (More)
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2010
2010
Partial trisomy 2p is a rare but relatively well-defined syndrome with distinctive clinical features, including marked… (More)
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Review
2007
Review
2007
Trisomy for the short arm of chromosome 18 or trisomy 18p, is rarely described. We report on a 13-year-old boy with minor facial… (More)
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Review
2005
Review
2005
Epilepsy is commonly observed in patients with chromosomal aberrations. We evaluated epilepsy and electroencephalographic (EEG… (More)
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1998
1998
We present a patient with developmental delay, minor anomalies, and duplication 18p confirmed by fluorescence in situ… (More)
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Review
1994
Review
1994
We report one patient with a de novo inversion duplication 18 (pter-->cen) and two cases of direct tandem duplication 18 (pter… (More)
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1993
1993
We present a case in which alternate, adjacent 2 and 3:1 meiotic segregations have occurred in the pregnancies of a female… (More)
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Review
1991
Review
1991
Direct two-generation transmission of an unbalanced 18p+ chromosome was discovered after amniocentesis. Neither the mother nor… (More)
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Review
1990
Review
1990
A 2-year-old boy with microcephaly, developmental delay, and minimal anomalies was found to have an extra submetacentric… (More)
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Review
1989
Review
1989
We report a family with an 18p trisomic mother and two 18p tetrasomic daughters. The mother is phenotypically normal and healthy… (More)
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