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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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Related topics

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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.
2019
2019
CLINICAL ASPECTS OF THE NEUROLOGICAL EFFECTS OF THE 18Q- SYNDROME ON A CHILD
INTRODUCTION: The 18q- syndrome is a rare condition and due to its extreme low occurrences, it can often be mistaken by other… 
2009
2009
Deletion syndrome : A neuropsychological case study 18 q Deletion Syndrome
Taylor & Francis makes every effort to ensure the accuracy of all the information (the “Content”) contained in the publications… 
1983
1983
Partial trisomy 1q and monosomy 18q due to a de novo t(1;18)(q25;q23).
A two-year-old girl trisomic for the segment 1q25 leads to qter and partially monosomic for band 18q23 as a consequence of a de… 
1983
1983
[Multiple abnormalities as a result of partial trisomy 4p and partial monosomy 18q by meiotic recombination].
1981
1981
Hyperuricaemia associated with 18q deletion. Atypical Lesch-Nyhan syndrome?
The existence of a clinically typical Lesch-Nyhan syndrome was observed in a male infant with 18q deletion syndrome. Indirect… 
1980
1980
[Observation of 7 cases of rare autosomal pathology. Trisomy 9p; monosomy 18q; ring 21; trisomy 6p; trisomy 2q 1-21 translocation].
1978
1978
[Separate nosologic entity of the 18q syndrome. Localization of the peptidase A gene in man].
1974
1974
Partial trisomy 4q and partial monosomy 18q as a consequence of a paternal balanced translocation t(4qminus; 18qplus).
1970
1970
The dermatoglyphics of the 18q- syndrome.
The dermatoglyphics of three patients with an 18q – karyotype are reported. Considering the total of 20 cases now known, this… 
1967
1967
[Two cases of 18q- syndrome with mosaicism (46,XX / 46,XX, 18q-)].