Chromosome 18p deletion syndrome

Known as: 18p monosomy, 18p syndrome, 18p deletion syndrome 
A rare genetic syndrome characterized by the deletion of the short arm of chromosome 18. It is associated with mental and growth retardation… (More)
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Facioscapulohumeral muscular dystrophy (FSHD) is most often associated with variegated expression in somatic cells of the… (More)
Is this relevant?
2013
2013
We present prenatal diagnosis of a de novo distal 18p deletion involving 14.06Mb at 18p11.32-p11.21 by aCGH using uncultured… (More)
Is this relevant?
Review
2008
Review
2008
Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. The… (More)
  • table 1
Is this relevant?
2007
2007
Molecular karyotyping holds the promise of improving genotype–phenotype correlations for frequent chromosome conditions such as… (More)
  • figure 1
  • table 1
  • figure 3
  • figure 2
  • table 2
Is this relevant?
2006
2006
The deletion 18p syndrome is one of the most common chromosome abnormalities. The medical problems are mental and postnatal… (More)
Is this relevant?
2000
2000
Chromosome 18p deletion syndrome is caused by the deletion of a portion of genetic material on the short (p) arm of chromosome 18… (More)
Is this relevant?
1999
1999
Some patients with an 18p- syndrome show dystonia, and a focal dystonia gene has been mapped to chromosome 18p. The authors… (More)
Is this relevant?
1992
1992
A patient is described with 18p- syndrome and hypopituitarism. This is the first patient with this syndrome who has been shown to… (More)
Is this relevant?
1990
1990
Nine cases are described of tetrasomy 18p resulting from the presence of an isochromosome 18p [i(18p)]. The initial diagnosis of… (More)
Is this relevant?
1971
1971
Holoprosencephaly is frequently associated with facial dysmorphia and together these anomalies constitute a single developmental… (More)
Is this relevant?