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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… 
National Institutes of Health

Related topics

Related topics

13 relations
Autosomal dominant inheritanceByzanthine arch palateClinodactylyCongenital hypoplasia of penis

Broader (3)

Chromosome DeletionChromosomes, Human, Pair 18Congenital chromosomal disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2004
2004
Case reports Single maxillary central incisor in a girl with del( l8p) syndrome
We present a girl with del(18p) syndrome and a single maxillary central incisor; she is only the second patient in whom this… 
1998
1998
Dystonia in a patient with deletion of 18p
Abstract18p- syndrome from chromosomal deletion of the short arm of chromosome 18 shows a wide range of clinical manifestations… 
1995
1995
Analysis of a whole arm translocation between chromosomes 18 and 20 using fluorescence in situ hybridization: detection of a break in the centromeric α-satellite sequences
Using classical cytogenetic techniques, we detected a male patient with monosomy 18p/trisomy 20p, originating from a paternal… 
1993
1993
Triple structural mosaicism of chromosome 18 in a child with MR/MCA syndrome and abnormal skin pigmentation.
A case of triple mosaicism involving chromosome 18 is described in a girl with abnormal skin pigmentation similar to… 
1992
1992
Fluorescence in situ hybridization (FISH) of a whole-arm translocation involving chromosomes 18 and 20 with α-satellite DNA probes: Detection of a centromeric DNA break?
Fluorescence in situ hybridization (FISH) with α-satellite DNA probes was used to study whole-arm chromosome translocation… 
1986
1986
Prenatal detection of monosomy 18p and trisomy 18q mosaicism with unexpected fetal phenotype.
A mosaic karyotype 46,XX,del(18)(p11)/46,XX,-18,+?i(18q) was found in cultured amniotic cells. Fetal blood sampling confirmed the… 
Review
1977
Review
1977
18p- Syndrome resulting from 14q/18q ‘dicentric’ fusion translocation
SummaryA child with nasal hypoplasia, growth and developmental delay, and 18p- due to 14q/18q apparent dicentric fusion is… 
Review
1977
Review
1977
Autoimmune Thyroiditis in a Case of 18p‐ Syndrome
A case of a 16-year-old female with autoimmune thyroiditis and a deletion of the short arm of a chromosome 18 (46, xx, 18p-) is… 
1969
1969
[18p- syndrome. A further case].
1968
1968
The 18p- syndrome. Report of two cases.
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