ArticleJournal of human genetics2006
Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.
Article in Journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Renpenning syndrome caused by the c.459_462delAGAG mutation in PQBP1: a case report and literature review.Frontiers in genetics · 2026Article
- Context-Dependent Roles of RNA Modifications in Stress Responses and Diseases.International journal of molecular sciences · 2021Review
- Xp11.2 Duplication in Females: Unique Features of a Rare Copy Number Variation.Frontiers in genetics · 2021Article
- Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1.BMC medical genomics · 2020Article
- Roles of the HUWE1 ubiquitin ligase in nervous system development, function and disease.Neural development · 2020Review
- Matching tRNA modifications in humans to their known and predicted enzymes.Nucleic acids research · 2019Article
- Landmarks in the Evolution of (t)-RNAs from the Origin of Life up to Their Present Role in Human Cognition.Life (Basel, Switzerland) · 2015Review
- Modify or die?--RNA modification defects in metazoans.RNA biology · 2014Review
- Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.American journal of human genetics · 2012Article
- Male gender bias in autism and pediatric autoimmunity.Autism research : official journal of the International Society for Autism Research · 2012Review
- Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.American journal of human genetics · 2009Article
- Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.Biological psychiatry · 2008Article
- Structural variation of chromosomes in autism spectrum disorder.American journal of human genetics · 2008Article
- Ethical implications of array comparative genomic hybridization in complex phenotypes: points to consider in research.Genetics in medicine : official journal of the American College of Medical Genetics · 2007Review
- Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.Human genetics · 2007Article
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Males with duplications within the short arm of the X chromosome are rare and most cases are inherited from a maternal heterozygote. Here we describe the first detailed characterization of a de-novo Xp duplication delineated to Xp11.22-->Xp11.23 in a 15-year-old male with moderate mental impairment, autistic-like behaviour, short stature, and mild dysmorphic features. Chromosome analysis (550 band resolution) was normal and comparative genomic hybridization (CGH) analysis on metaphase spreads detected duplication on Xp11. Further characterization of the duplication by array CGH, FISH experiments with specific BAC probes, and genotyping with microsatellite markers helped to determine proximal and distal breakpoints giving a size of the duplication of approximately 5 Mb. As far as we are aware this is the first described male with isolated microduplication on Xp11.22-Xp11.23. Among the genes included within the duplicated region, and particularly those which are outside copy number polymorphisms, we discuss the relationship of FTSJ1, PQBP1 and HDAC6 with the clinical symptoms of our patient.
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