Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

Chromosome 15q13.3 Microdeletion Syndrome

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

Related topics

Related topics

5 relations

Broader (5)

Chromosome DeletionChromosomes, Human, Pair 15Congenital chromosomal diseaseIntellectual Disability
Expand

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome.
15q13.3 microdeletion syndrome is characterized by a wide spectrum of neurodevelopmental disorders, including developmental delay… Expand
Is this relevant?
2016
2016
The complex behavioral phenotype of 15q13.3 microdeletion syndrome
Background:Chromosome 15q13.3 represents a hotspot for genomic rearrangements due to repetitive sequences mediating nonallelic… Expand
  • figure 1
  • table 1
  • table 2
  • figure 2
  • figure 3
Is this relevant?
2015
2015
Mouse Model of Chromosome 15q13.3 Microdeletion Syndrome Demonstrates Features Related to Autism Spectrum Disorder
The chromosome 15q13.3 microdeletion is a pathogenic copy number variation conferring epilepsy, intellectual disability… Expand
Is this relevant?
2014
2014
Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory
AZF microdeletion screening is routinely performed in the diagnostic work-up for male infertility; however, some issues remain… Expand
  • table 1
  • figure 1
  • table 2
  • table 4
  • figure 2
Is this relevant?
Highly Cited
2013
Highly Cited
2013
Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype.
The 15q13.3 microdeletion syndrome (OMIM #612001) is characterized by a wide range of phenotypic features, including intellectual… Expand
  • figure 1
  • figure 2
  • figure 3
Is this relevant?
Highly Cited
2010
Highly Cited
2010
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity
Purpose: The short arm of chromosome 16 is rich in segmental duplications, predisposing this region of the genome to a number of… Expand
Is this relevant?
2010
2010
High prevalence of AZFb microdeletion in Iranian patients with idiopathic non-obstructive azoospermia.
BACKGROUND & OBJECTIVES Genetic factors contribute about 10 per cent of male infertility. Among these, genes in azoospermia… Expand
Is this relevant?
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… Expand
  • figure 1
  • figure 2
  • table 1
  • figure 3
  • figure 4
Is this relevant?
2008
2008
Private inherited microdeletion/microduplications: implications in clinical practice.
The introduction of array-CGH analysis is allowing the identification of novel genomic disorders. However, this new high… Expand
  • table 1
Is this relevant?
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… Expand
Is this relevant?
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License
ACCEPT & CONTINUE