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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

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Related topics

5 relations

Broader (5)

Chromosome DeletionChromosomes, Human, Pair 15Congenital chromosomal diseaseIntellectual Disability

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
An analysis of the frequency of Y‐chromosome microdeletions and the determination of a threshold sperm concentration for genetic testing in infertile men
To describe the prevalence of Y‐chromosome microdeletions in a multi‐ethnic urban population in London, UK. To also determine… 
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… 
2013
2013
Clinical characteristics and treatment of azoospermia and severe oligospermia patients with Y‐chromosome microdeletions
Clinical characteristics, testicular pathology, serum levels of reproductive hormones, and genetic analysis were compared among… 
Highly Cited
2013
Highly Cited
2013
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… 
2013
2013
Y chromosome AZFc microdeletion may not affect the outcomes of ICSI for infertile males with fresh ejaculated sperm
PurposeTo explore whether the presence of a Y chromosome AZFc microdeletion confers any adverse effect on the outcomes of… 
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… 
Review
2009
Review
2009
3q29 microdeletion: A mental retardation disorder unassociated with a recognizable phenotype in two mother–daughter pairs
The 3q29 microdeletion syndrome (del 3q29) is a novel genomic disorder identified after the introduction of microarray‐based… 
2007
2007
Azoospermia factor deletions in varicocele cases with severe oligozoospermia.
BACKGROUND Varicocele is the most common cause of male infertility. The etiology and pathophysiology of varicocele are… 
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… 
1998
1998
Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.
The Rubinstein-Taybi syndrome (RTS) is a well-defined entity characterized by growth and mental retardation, broad thumbs and… 
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