XY sex reversal and gonadal dysgenesis due to 9p24 monosomy
dc.contributor.author | McDonald, Marie T. | en_US |
dc.contributor.author | Flejter, Wendy L. | en_US |
dc.contributor.author | Sheldon, Susan | en_US |
dc.contributor.author | Putzi, Mathew J. | en_US |
dc.contributor.author | Gorski, Jerome L. | en_US |
dc.date.accessioned | 2006-04-28T16:49:24Z | |
dc.date.available | 2006-04-28T16:49:24Z | |
dc.date.issued | 1997-12-19 | en_US |
dc.identifier.citation | McDonald, Marie T.; Flejter, Wendy; Sheldon, Susan; Putzi, Mathew J.; Gorski, Jerome L. (1997)."XY sex reversal and gonadal dysgenesis due to 9p24 monosomy." American Journal of Medical Genetics 73(3): 321-326. <http://hdl.handle.net/2027.42/38270> | en_US |
dc.identifier.issn | 0148-7299 | en_US |
dc.identifier.issn | 1096-8628 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/38270 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=9415692&dopt=citation | en_US |
dc.description.abstract | We describe a case of XY sex reversal, gonadal dysgenesis, and gonadoblastoma in a patient with a deletion of 9p24 due to a familial translocation. The rearranged chromosome 9 was inherited from the father; the patient's karyotype was 46,XY,der(9)t(8;9)(p21;p24)pat. A review shows that 6 additional patients with 46,XY sex reversal associated with monosomy of the distal short arm of chromosome 9 have been observed. The observation that all 7 patients with sex reversal share a deletion of the distal short arm of chromosme 9 is consistent with the hypothesis that the region 9p24 contains a gene or genes necessary for male sex determination. This present case narrows the chromosome interval containing a critical sex determination gene to the relatively small region 9p24. A molecular analysis of this region will provide a means to identify a gene invoved in male sex determination. Am. J. Med. Genet. 73:321–326, 1997. © 1997 Wiley-Liss, Inc. | en_US |
dc.format.extent | 389429 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | XY sex reversal and gonadal dysgenesis due to 9p24 monosomy | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Pediatrics, University of Michigan, Ann Arbor, Michigan ; Department of Pediatrics, 3570 Medical Science Research Building II, Box 0688, University of Michigan Medical Center, Ann Arbor, MI 48109-0688. E-mail: mtmcdon@umich.edu | en_US |
dc.contributor.affiliationum | Department of Pathology, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Pathology, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationum | Department of Pediatrics, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationother | Department of Pediatrics, University of Utah, Salt Lake City, Utah | en_US |
dc.identifier.pmid | 9415692 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/38270/1/17_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/(SICI)1096-8628(19971219)73:3<321::AID-AJMG17>3.0.CO;2-L | en_US |
dc.identifier.source | American Journal of Medical Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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