Chromosome 13q deletion syndrome

Known as: monosomy 13q, partial monosomy 13q, 13q deletion syndrome 
A rare syndrome that is characterized by the partial deletion of the long arm of chromosome 13. Signs and symptoms include low birth weight… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1973-2016
02419732016

Papers overview

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2017
2017
Partial deletions on the long arm of chromosome 13 lead to a number of different phenotypes depending on the size and position of… (More)
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2015
2015
We describe two unrelated patients with terminal deletions in the long arm of chromosome 13 showing brain malformation consisting… (More)
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Review
2014
Review
2014
PURPOSE The advent of cochlear implantation has been followed by an explosion in surgical and technological advances with… (More)
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2014
2014
Patients with 13q deletion syndrome are characterized with different phenotypical features depending on the size and location of… (More)
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2013
2013
13q deletion syndrome is a rare genetic disorder, especially for group 3 deletion (13q33-q34 deletion). Previously we described a… (More)
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2009
2009
13q deletion is characterized by a wide phenotypic spectrum resulting from a partial deletion of the long arm of chromosome 13… (More)
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2009
2009
Waardenburg-Shah syndrome (Waardenburg syndrome type IV-WS4) is an auditory-pigmentary disorder that combines clinical features… (More)
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2004
2004
A 10-month-old boy, known to have the 13q deletion syndrome, presented with leukocoria in a microphthalmic right eye. He was… (More)
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2002
2002
The first reported case of clinically significant congenital Factor VII deficiency in association with the 13q deletion syndrome… (More)
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2000
2000
Neural tube defects (NTD) are common findings in the 13q deletion syndrome, but the relationship between the 13q- syndrome and… (More)
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