| Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome. | |
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MedLine Citation:
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PMID: 20358614 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Interstitial deletions of 1q4 are rare and present with different deletion breakpoints and variable phenotype. We report on the clinical and molecular cytogenetic findings in a girl with minor anomalies, midline defects including prenatally ascertained agenesis of the corpus callosum, epilepsy and developmental delay. A de novo 5.45 Mb deletion almost exclusively located within 1q42 was found to cause this phenotype, which shows significant overlap with the microdeletion 1q41q42 syndrome reported in a few patients except for the agenesis of the corpus callosum. However, deletions in patients with the 1q41q42 syndrome mainly extend into the 1q41 region with a region of overlap including the DISP1 gene involved in the SHH pathway, which is not part of the 1q42 deletion in our patient. We suggest that an interaction of genes involved in pathways of embryonic development rather than haploinsufficiency of single genes in the so-called critical regions is causing complex malformation syndromes due to cytogenetic microaberrations in the 1q4 region. |
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Authors:
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Isabel Filges; Benno Röthlisberger; Nemya Boesch; Peter Weber; Friedel Wenzel; Andreas R Huber; Karl Heinimann; Peter Miny |
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Publication Detail:
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Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Apr |
Date Detail:
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Created Date: 2010-04-01 Completed Date: 2010-07-08 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 987-93 Citation Subset: IM |
Copyright Information:
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(c) 2010 Wiley-Liss, Inc. |
Affiliation:
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Division of Medical Genetics, Department of Biomedicine, University Children's Hospital, Basel, Switzerland. isabel.filges@unibas.ch |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Chromosome Deletion* Chromosomes, Human, Pair 1 / genetics* Comparative Genomic Hybridization Corpus Callosum / abnormalities* DNA Copy Number Variations / genetics Female Genetic Association Studies* Humans Infant Infant, Newborn Nails, Malformed / complications, genetics Pregnancy Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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