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Deletion of long arm of chromosome 18

Known as: 18q- SYNDROME, CHROMOSOME 18q DELETION SYNDROME, Chromosome 18 deletion syndrome 
A rare genetic syndrome characterized by the deletion of the long arm of chromosome 18. It is associated with short stature, hypotonia, mental… 
National Institutes of Health

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Narrower (1)

Chromosome 18, monosomy 18Q

Broader (3)

Chromosome DeletionChromosomes, Human, Pair 18Congenital chromosomal disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2006
2006
Direct transmission of the 18q- syndrome from mother to daughter.
A 34-year-old mother presented moderate mental retardation, short stature, microcephaly, and characteristic facial dysmorphism… 
Review
2006
Review
2006
Cytogenetic genotype-phenotype studies: Improving genotyping, phenotyping and data storage
High-resolution molecular cytogenetic techniques such as genomic array CGH and MLPA detect submicroscopic chromosome aberrations… 
2005
2005
Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a "de novo" pericentric inversion of chromosome Y.
Review
2003
Review
2003
Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region
We report three generation family that includes two patients with severe mental retardation and additional anomalies who have… 
1996
1996
A new deletion of 18q23 with few typical features of the 18q- syndrome.
We report on a patient with a deletion of 18q23. At both 2 and 4 years of age, she displayed few of the facial features or other… 
1995
1995
The 18q- syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2.
The 18q- syndrome is one of several terminal deletion disorders that occur in humans. Previous G-banding studies suggest that the… 
1994
1994
18q- and 18q+ mosaicism in a mentally retarded boy.
A mentally retarded boy was found to have an unusual chromosomal mosaicism [46,XY, del(18) (q22)/46,XY,iso psu dic(18)(q23)]. The… 
1980
1980
Distal 18q deletion without clinical findings of 18q- syndrome.
A de nova translocation of long arm of chromosome 3 to the distal third of long arm of 18 was detected in a 10 years old boy… 
1971
1971
Aneusomie de recombinaison: rearrangement between paternal chromosomes 4 and 18 yielding offspring with features of the 18q- syndrome.
1967
1967
[Two cases of 18q- syndrome with mosaicism (46,XX / 46,XX, 18q-)].
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