FAQ

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

Related topics

Related topics

7 relations
Chromosome 13q deletionChromosome 13q trisomyChromosome AberrationsPediatric Terminology

Broader (3)

Chromosome DeletionChromosomes, Human, Pair 13Congenital chromosomal disease

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Chromosome 13q deletion syndrome
Chromosome Deletion
Chromosome Aberrations
Congenital chromosomal disease
Chromosomes, Human, Pair 13
Chromosome 13q trisomy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Chromosome 13q deletion syndrome involving 13q31-qter: A case report
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
Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34.
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
Cochlear implantation in 13q deletion syndrome.
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
Phenotypical characterization of 13q deletion syndrome: Report of two cases
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
A 1.1Mb deletion in distal 13q deletion syndrome region with congenital heart defect and postaxial polydactyly: additional support for a CHD locus at distal 13q34 region.
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
Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.
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
Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus.
Waardenburg-Shah syndrome (Waardenburg syndrome type IV-WS4) is an auditory-pigmentary disorder that combines clinical features… (More)
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2004
2004
Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome.
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
Severe congenital Factor VII deficiency associated with the 13q deletion syndrome.
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 and the 13q deletion syndrome: evidence for a critical region in 13q33-34.
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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