ArticleOrphanet journal of rare diseases2011
Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome.
Article in Orphanet journal of rare diseases, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed, 13 citations in OpenAlex.
- Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency.Scientific reports · 2024Article
- Neural crest cells require Meis2 for patterning the mandibular arch via the Sonic hedgehog pathway.Biology open · 2020Article
- A long noncoding RNA cluster-based genomic locus maintains proper development and visual function.Nucleic acids research · 2019Article
- Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability.European journal of human genetics : EJHG · 2019Article
- A 15q14 microdeletion involvingHuman genome variation · 2017Article
- Telomere shortening and telomere position effect in mild ring 17 syndrome.Epigenetics & chromatin · 2014Article
- Familial complex chromosome rearrangement (CCR) involving 5 breakpoints on chromosomes 1, 3 and 13 in a severe oligozoospermic patient.Journal of assisted reproduction and genetics · 2013Article
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10 authors at 2 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Complex chromosome rearrangements are constitutional structural rearrangements involving three or more chromosomes or having more than two breakpoints. These are rarely seen in the general population but their frequency should be much higher due to balanced states with no phenotypic presentation. These abnormalities preferentially occur de novo during spermatogenesis and are transmitted in families through oogenesis.Here, we report a de novo complex chromosome rearrangement that interests eight chromosomes in eighteen-year-old boy with an abnormal phenotype consisting in moderate developmental delay, cleft palate, and facial dysmorphisms.Standard G-banding revealed four apparently balanced translocations [corrected] involving the chromosomes 1;13, 3;19, 9;15 and 14;18 that appeared to be reciprocal. Array-based comparative genomic hybridization analysis showed no imbalances at all the breakpoints observed except for an interstitial microdeletion on chromosome 15. This deletion is 1.6 Mb in size and is located at chromosome band 15q14, distal to the Prader-Willi/Angelman region. Comparing the features of our patient with published reports of patients with 15q14 deletion this finding corresponds to the smallest genomic region of overlap. The deleted segment at 15q14 was investigated for gene content.
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