| Neural tube defects and the 13q deletion syndrome: evidence for a critical region in 13q33-34. | |
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MedLine Citation:
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PMID: 10756348 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Neural tube defects (NTD) are common findings in the 13q deletion syndrome, but the relationship between the 13q- syndrome and NTDs is poorly understood. We present a child with a 13q deletion and lumbosacral myelomeningocele. This was a boy with microcephaly, telecanthus, minor facial anomalies, and ambiguous genitalia. Cytogenetic and fluorescence in situ hybridization analysis showed a de novo 46,XY,del(13)(q33.2-->qter) with no visible translocation. By using microsatellite markers, the deletion breakpoint was mapped to a 350-kb region between D13S274 and D13S1311 and was paternal in origin. An analysis of 13q deletions with NTDs, including the present case, suggests that a deletion in 13q33-34 is sufficient to cause an NTD. The deletions associated with NTDs are distal to and nonoverlapping with the previously defined critical region in 13q32 for the major malformation syndrome [Brown et al., 1999: Am J Hum Genet 57: 859-866]. Our analysis also suggests that one or more genes in 13q33-34 produces NTDs by haploinsufficiency. |
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Authors:
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J Luo; N Balkin; J F Stewart; J F Sarwark; J Charrow; J S Nye |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: American journal of medical genetics Volume: 91 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 2000 Mar |
Date Detail:
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Created Date: 2000-05-19 Completed Date: 2000-05-19 Revised Date: 2007-11-14 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 227-30 Citation Subset: IM |
Copyright Information:
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Copyright 2000 Wiley-Liss, Inc. |
Affiliation:
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Department of Molecular Pharmacology and Biological Chemistry, Northwestern University, Chicago, Illinois 60611, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Adolescent Chromosome Banding Chromosome Deletion* Chromosomes, Human, Pair 13* Cryptorchidism / genetics Genitalia, Male / abnormalities Humans Karyotyping Lumbosacral Region Male Meningomyelocele / genetics Neural Tube Defects / genetics* Urinary Bladder, Neurogenic / genetics |
| Grant Support | |
ID/Acronym/Agency:
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NS39818/NS/NINDS NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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