Prenatal diagnosis of hereditary spastic paraplegia This article is a US Government work and is in the public domain in the USA.
dc.contributor.author | Hedera, Peter | en_US |
dc.contributor.author | Williamson, Jeffrey A. | en_US |
dc.contributor.author | Rainier, Shirley | en_US |
dc.contributor.author | Alvarado, David | en_US |
dc.contributor.author | Tukel, Turgut | en_US |
dc.contributor.author | Apak, Memnune | en_US |
dc.contributor.author | Fink, John K. | en_US |
dc.date.accessioned | 2006-04-19T13:46:24Z | |
dc.date.available | 2006-04-19T13:46:24Z | |
dc.date.issued | 2001-03 | en_US |
dc.identifier.citation | Hedera, Peter; Williamson, Jeffrey A.; Rainier, Shirley; Alvarado, David; Tukel, Turgut; Apak, Memnune; Fink, John K. (2001)."Prenatal diagnosis of hereditary spastic paraplegia This article is a US Government work and is in the public domain in the USA. ." Prenatal Diagnosis 21(3): 202-206. <http://hdl.handle.net/2027.42/34701> | en_US |
dc.identifier.issn | 0197-3851 | en_US |
dc.identifier.issn | 1097-0223 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/34701 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=11260609&dopt=citation | en_US |
dc.description.abstract | Hereditary spastic paraplegia (HSP) is a degenerative neurologic disorder that causes progressive, often severe, spastic weakness in the legs. Autosomal dominant HSP is a highly penetrant, genetically heterogeneous disorder with loci present on chromosomes 2p21-24, 2q24-34, 8q23-24, 10q23.3-24, 12q13, 14q12-23, 15q11-14 and 19q13.1. We identified a large HSP kindred in which the disorder was tightly linked to chromosome 14q12-23. We tested chorionic villus DNA samples of two at-risk fetuses for inheritance of microsatellite polymorphisms flanking and within this locus that segregated with the disease in this family. Whereas samples from the first fetus showed inheritance of a haplotype segregating with the disease allele (indicating high risk of developing HSP), samples from the second fetus showed inheritance of a haplotype segregating with the normal allele (indicating low risk of developing HSP). This is the first report of prenatal testing for HSP. Published in 2001 by John Wiley & Sons, Ltd. | en_US |
dc.format.extent | 81478 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | John Wiley & Sons, Ltd. | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | Prenatal diagnosis of hereditary spastic paraplegia This article is a US Government work and is in the public domain in the USA. | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Internal Medicine and Specialties | en_US |
dc.subject.hlbsecondlevel | Obstetrics and Gynecology | en_US |
dc.subject.hlbsecondlevel | Radiology | en_US |
dc.subject.hlbsecondlevel | Women's and Gender Studies | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.subject.hlbtoplevel | Humanities | en_US |
dc.subject.hlbtoplevel | Social Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Neurology, University of Michigan, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationum | Department of Neurology, University of Michigan, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationum | Department of Neurology, University of Michigan, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationum | Department of Neurology, University of Michigan, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationum | Department of Neurology, University of Michigan, Ann Arbor, MI, USA ; Geriatric Research Education Clinical Center, Ann Arbor Veteran's Affairs Medical Center, Ann Arbor, MI, USA ; Room 5214 CCGCB, 1500 E Medical Center Drive, Ann Arbor, MI 48109-0940, USA. | en_US |
dc.contributor.affiliationother | Division of Medical Genetics, Institute of Child Health, University of Istanbul, Istanbul, Turkey | en_US |
dc.contributor.affiliationother | Division of Medical Genetics, Institute of Child Health, University of Istanbul, Istanbul, Turkey | en_US |
dc.identifier.pmid | 11260609 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/34701/1/4_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/1097-0223(200103)21:3<202::AID-PD4>3.0.CO;2-U | en_US |
dc.identifier.source | Prenatal Diagnosis | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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