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Kleefstra Syndrome

Known as: 9q- Syndrome, 9q34.3 Microdeletion Syndrome, 9q Subtelomeric Deletion Syndrome 
National Institutes of Health

Related topics

Related topics

21 relations
Abnormal behaviorAggressive behaviorAutosomal dominant inheritanceBrachycephaly

Broader (5)

Chromosome DeletionChromosomes, Human, Pair 9Congenital Heart DefectsCraniofacial Abnormalities

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities
Detailed neurobehavioural profiles are of major value for specific clinical management, but have remained underexposed in the… 
Highly Cited
2014
Highly Cited
2014
Suppression of subtelomeric VSG switching by Trypanosoma brucei TRF requires its TTAGGG repeat-binding activity
Trypanosoma brucei causes human African trypanosomiasis and regularly switches its major surface antigen, VSG, in the bloodstream… 
2013
2013
Characterization and rescue of telomeric abnormalities in ICF syndrome type I fibroblasts
Mutations in the human DNA methyltransferase 3B (DNMT3B) gene lead to ICF (immunodeficiency, centromeric region instability, and… 
2010
2010
Cognitive‐behavioral features of Wolf–Hirschhorn syndrome and other subtelomeric microdeletions
Wolf–Hirschhorn syndrome (WHS) is a complex congenital malformation produced by a loss of genomic material at the locus 4p16.3… 
2007
2007
Pure subtelomeric microduplications as a cause of mental retardation
Submicroscopic subtelomeric aberrations are a common cause of mental retardation (MR). New molecular techniques allow the… 
2006
2006
Ring chromosome 4 and Wolf–Hirschhorn syndrome (WHS) in a child with multiple anomalies
We report on a 16‐month‐old male patient with ring chromosome 4 and deletion of Wolf–Hirschhorn syndrome (WHS) region with… 
2005
2005
Ring chromosome 15: characterization by array CGH
Ring chromosome 15 [r(15)] is an uncommon finding with less than 50 patients reported. Precise genotype–phenotype correlations… 
Highly Cited
2004
Highly Cited
2004
Rapid detection of subtelomeric deletion/duplication by novel real‐time quantitative PCR using SYBR‐green dye
Telomeric chromosome rearrangements may cause mental retardation, congenital anomalies, miscarriages, and hematological… 
Highly Cited
2003
Highly Cited
2003
Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients
Purpose: A complete set of subtelomeric fluorescent DNA probes, except the acrocentric p-arms, was developed in 1996, was… 
Review
1993
Review
1993
Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms.
Given the availability of DNA from both parents, unusual segregation of hypervariable DNA polymorphisms (HVPs) in the offspring… 
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