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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… Expand
National Institutes of Health

Papers overview

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2007
2007
Molecular karyotyping holds the promise of improving genotype–phenotype correlations for frequent chromosome conditions such as… Expand
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2007
2007
The phenotype of monosomy 18p varies widely, the main clinical manifestations being mental and growth retardation, and… Expand
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Highly Cited
2006
Highly Cited
2006
The deletion 18p syndrome is one of the most common chromosome abnormalities. The medical problems are mental and postnatal… Expand
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2006
2006
Abstract18p- syndrome from chromosomal deletion of the short arm of chromosome 18 shows a wide range of clinical manifestations… Expand
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2001
2001
We report on sibs and their mother, all with del(18p). The propositus, an 11-month-old, had developmental delay, round face… Expand
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1999
1999
We report a case of dystonia with a partial deletion of the short arm (p) of chromosome 18 and androgen insensitivity Neurologic… Expand
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Highly Cited
1990
Highly Cited
1990
Nine cases are described of tetrasomy 18p resulting from the presence of an isochromosome 18p [i(18p)]. The initial diagnosis of… Expand
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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… Expand
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1986
1986
Developmental characteristics of three girls with 18p- syndrome are described, with detailed history and results of psychological… Expand
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Highly Cited
1971
Highly Cited
1971
Holoprosencephaly is frequently associated with facial dysmorphia and together these anomalies constitute a single developmental… Expand
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