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Chromosome 15q13.3 Microdeletion Syndrome

Known as: 15q13.3 Microdeletion Syndrome, Microdeletion 15q13.3 Syndrome, Chromosome 15q13.3 Deletion Syndrome 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2001-2017
02420012017

Related topics

Related topics

5 relations

Broader (5)

Chromosome DeletionChromosomes, Human, Pair 15Congenital chromosomal diseaseIntellectual Disability
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Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Chromosome 15q13.3 Microdeletion Syndrome
Seizures
Congenital chromosomal disease
Chromosome Deletion
Intellectual Disability
Chromosomes, Human, Pair 15

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
A novel Xp22.13 microdeletion in Nance-Horan syndrome.
BACKGROUND Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder characterized by congenital cataract, dental… (More)
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2016
2016
"It wasn't a disaster or anything": Parents' experiences of their child's uncertain chromosomal microarray result.
Chromosomal microarray is an increasingly utilized diagnostic test, particularly in the pediatric setting. However, the clinical… (More)
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2016
2016
An acetylcholine alpha7 positive allosteric modulator rescues a schizophrenia-associated brain endophenotype in the 15q13.3 microdeletion, encompassing CHRNA7.
The 15q13.3 microdeletion copy number variation is strongly associated with schizophrenia and epilepsy. The CHRNA7 gene, encoding… (More)
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2016
2016
Correlation between Y chromosome microdeletion and male infertility.
Dyszoospermia due to genetic factors is the leading cause of male infertility. To explore the correlation between azoospermia… (More)
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2016
2016
Assessment of Cognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome.
15q13.3 microdeletion syndrome causes a spectrum of cognitive disorders, including intellectual disability and autism. We aimed… (More)
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2015
2015
Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma.
BACKGROUND The development of sequencing-based noninvasive prenatal testing (NIPT) has been largely focused on whole-chromosome… (More)
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2013
2013
De novo 15q13.3 microdeletion with cryptogenic West syndrome.
West syndrome is a well-recognized form of epilepsy, defined by a triad of infantile spasms, hypsarrhythmia and developmental… (More)
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Highly Cited
2008
Highly Cited
2008
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms… (More)
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2002
2002
A new case of Yq microdeletion transmitted from a normal father to two infertile sons.
During the last few years, microdeletions of the long arm of the Y chromosome, involving loci AZFa, AZFb, and AZFc, have been… (More)
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2002
2002
Cryptorchidism and AZF microdeletion.
 
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