ArticleHuman genetics2007
Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.
Article in Human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- The spectrum of chromosomal translocations in the Arab world: ethnic-specific chromosomal translocations and their relevance to diseases.Chromosoma · 2022Pooled it
- Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32.European journal of human genetics : EJHG · 2025Article
- Multiple occurrence of psychomotor retardation and recurrent miscarriages in a family with a submicroscopic reciprocal translocation t(7;17)(p22;p13.2).BMC medical genomics · 2018Article
- Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3.Frontiers in genetics · 2018Review
- [Clinical phenotypes and copy number variations in children with microdeletion and microduplication syndromes: an analysis of 50 cases].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2016Article
- Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.American journal of human genetics · 2015Article
- Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA.Clinical case reports · 2014Article
- Hypertelorism in Charcot-Marie-Tooth disease 1A from the common PMP22 duplication: A Case Report.Oman medical journal · 2012Article
- RAF gene fusion breakpoints in pediatric brain tumors are characterized by significant enrichment of sequence microhomology.Genome research · 2011Article
- Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.American journal of human genetics · 2010Article
- Mechanisms of change in gene copy number.Nature reviews. Genetics · 2009Review
- Complex human chromosomal and genomic rearrangements.Trends in genetics : TIG · 2009Review
- The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.Nature genetics · 2009Article
- A microhomology-mediated break-induced replication model for the origin of human copy number variation.PLoS genetics · 2009Review
- Copy number variation in human health, disease, and evolution.Annual review of genomics and human genetics · 2009Review
- Presentation, heritability, and genome-wide linkage analysis of the midchildhood growth spurt in healthy children from the Fels Longitudinal Study.Human biology · 2008Article
- Mechanisms for human genomic rearrangements.PathoGenetics · 2008Article
- Missing Links Between Genetically Inherited Molecules in Split Cord Malformation and Other Anomaly: A Bench to Bedside Approach.Journal of pediatric neurosciencesArticle
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Authors and funding
14 authors at 5 institutions in 2 countries.
Funding
Abstract
Recent molecular cytogenetic data have shown that the constitution of complex chromosome rearrangements (CCRs) may be more complicated than previously thought. The complicated nature of these rearrangements challenges the accurate delineation of the chromosomal breakpoints and mechanisms involved. Here, we report a molecular cytogenetic analysis of two patients with congenital anomalies and unbalanced de novo CCRs involving chromosome 17p using high-resolution array-based comparative genomic hybridization (array CGH) and fluorescent in situ hybridization (FISH). In the first patient, a 4-month-old boy with developmental delay, hypotonia, growth retardation, coronal synostosis, mild hypertelorism, and bilateral club feet, we found a duplication of the Charcot-Marie-Tooth disease type 1A and Smith-Magenis syndrome (SMS) chromosome regions, inverted insertion of the Miller-Dieker lissencephaly syndrome region into the SMS region, and two microdeletions including a terminal deletion of 17p. The latter, together with a duplication of 21q22.3-qter detected by array CGH, are likely the unbalanced product of a translocation t(17;21)(p13.3;q22.3). In the second patient, an 8-year-old girl with mental retardation, short stature, microcephaly and mild dysmorphic features, we identified four submicroscopic interspersed 17p duplications. All 17 breakpoints were examined in detail by FISH analysis. We found that four of the breakpoints mapped within known low-copy repeats (LCRs), including LCR17pA, middle SMS-REP/LCR17pB block, and LCR17pC. Our findings suggest that the LCR burden in proximal 17p may have stimulated the formation of these CCRs and, thus, that genome architectural features such as LCRs may have been instrumental in the generation of these CCRs.
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