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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

Related topics

Related topics

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Broader (5)

Chromosome DeletionChromosomes, Human, Pair 15Congenital chromosomal diseaseIntellectual Disability

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Magnesium Supplement and the 15q11.2 BP1–BP2 Microdeletion (Burnside–Butler) Syndrome: A Potential Treatment?
The 15q11.2 BP1–BP2 microdeletion (Burnside–Butler) syndrome is an emerging disorder that encompasses four genes (NIPA1, NIPA2… 
2016
2016
[Outcome of treatment of Y chromosome AZFc microdeletion patients].
OBJECTIVE To discuss the treatment options for patients with azoospermia factor (AZF) c microdeletion on Y chromosome. METHODS… 
2014
2014
Further phenotypic expansion of 15q11.2 BP1-BP2 microdeletion (Burnside-Butler) syndrome
Abstract We report a 10-year-old Caucasian male identified with copy number variation detected by microarray analysis including a… 
2014
2014
Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?
The proximal 15q11–q13 region contains 5 breakpoints (BP1–BP5). The BP1-BP2 region spans approximately 500 kb and contains four… 
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… 
Review
2013
Review
2013
Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4
Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0… 
2012
2012
LGI1 microdeletion in autosomal dominant lateral temporal epilepsy
Objectives: To characterize clinically and genetically a family with autosomal dominant lateral temporal epilepsy (ADLTE… 
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… 
2002
2002
Case report：Cryptorchidism and AZF microdeletion
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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