{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T04:57:25Z","timestamp":1694840245019},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,4,4]],"date-time":"2005-04-04T00:00:00Z","timestamp":1112572800000},"content-version":"vor","delay-in-days":3321,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[1996,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A healthy woman sought preconceptional genetic counseling regarding a family history of a mitochondrial myopathy in her brother and retinitis pigmentosa (RP) in her two maternal aunts. Several questions were raised: (1) What is the likelihood of a familial mitochondrial condition? (2) What molecular tests or prenatal screening can we offer? (3) How would these tests help assess the likelihood of a familial mitochondrial condition? A mitochondrial mutation previously identified in the brother consisted of a heteroplasmic 2.9 kb deletion. We detected this deletion in the peripheral blood of the brother by PCR amplification of the deletion breakpoint, but not in his mother, the consultand, nor in one of the two aunts affected with RP. Although the molecular analysis was encouraging to the consultand, a familial mitochondrial disorder could not be eliminated with certainty. The pros and cons of prenatal testing for mitochondrial disorders are discussed in general, and as specifically related to this family.<\/jats:p>","DOI":"10.1007\/bf01408662","type":"journal-article","created":{"date-parts":[[2005,4,3]],"date-time":"2005-04-03T05:28:30Z","timestamp":1112506110000},"page":"17-26","source":"Crossref","is-referenced-by-count":0,"title":["Controversies in counseling for mitochondrial conditions"],"prefix":"10.1002","volume":"5","author":[{"given":"Annie","family":"Kupelian","sequence":"first","affiliation":[{"name":"Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Medical Genetics\u2010Birth Defects Center Cedars\u2010Sinai Research Institute and UCLA School of Medicine Los Angeles CA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rena E.","family":"Falk","sequence":"additional","affiliation":[{"name":"Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Medical Genetics\u2010Birth Defects Center Cedars\u2010Sinai Research Institute and UCLA School of Medicine Los Angeles CA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jana","family":"Klein","sequence":"additional","affiliation":[{"name":"Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Medical Genetics\u2010Birth Defects Center Cedars\u2010Sinai Research Institute and UCLA School of Medicine Los Angeles CA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Fournier","sequence":"additional","affiliation":[{"name":"Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Medical Genetics\u2010Birth Defects Center Cedars\u2010Sinai Research Institute and UCLA School of Medicine Los Angeles CA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathan","family":"Fischel\u2010Ghodsian","sequence":"additional","affiliation":[{"name":"Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Medical Genetics\u2010Birth Defects Center Cedars\u2010Sinai Research Institute and UCLA School of Medicine Los Angeles CA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,4,4]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/290457a0"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.cb.04.110188.001445"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80962-X"},{"key":"e_1_2_1_5_1","first-page":"223","article-title":"Population genetic studies of retinitis pigmentosa","volume":"32","author":"Boughman JA","year":"1980","journal-title":"Am J Hum Genet"},{"issue":"3","key":"e_1_2_1_6_1","article-title":"Genetic linkage studies in autosomal recessive retinitis pigmentosa","volume":"55","author":"Bruford EA","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0031-3955(16)38297-9"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410170602"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01812852"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250406"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199206000-00004"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1978.03910050428005"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.77.11.6715"},{"issue":"3","key":"e_1_2_1_14_1","first-page":"629","article-title":"Prenatal diagnosis of mitochondrial DNA 8993 T\u2014G disease","volume":"50","author":"Harding AE","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.82.9.2895"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198905183202001"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(14)76784-4"},{"issue":"1","key":"e_1_2_1_18_1","first-page":"178","article-title":"Deficiency in NADP dehydrogenase and cytochrome b in a patient with a familial mitochondrial myopathy","volume":"41","author":"Nigro MA","year":"1991","journal-title":"Neurology"},{"issue":"5","key":"e_1_2_1_19_1","first-page":"622","article-title":"Mitochondrial diseases (review)","volume":"5","author":"Nonaka I","year":"1992","journal-title":"Curr Opin Neurol Neurosurg"},{"key":"e_1_2_1_20_1","first-page":"1","volume-title":"Human Genetic Diseases: A Practical Approach","author":"Old JM","year":"1986"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1993.01090110091031"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.77.2.84"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560217"},{"key":"e_1_2_1_24_1","unstructured":"ShoffnerJ(1994) (personal communication)."}],"container-title":["Journal of Genetic Counseling"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01408662","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01408662","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T14:06:43Z","timestamp":1694786803000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01408662"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,3]]},"references-count":23,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1996,3]]}},"alternative-id":["10.1007\/BF01408662"],"URL":"https:\/\/doi.org\/10.1007\/bf01408662","archive":["Portico"],"relation":{},"ISSN":["1059-7700","1573-3599"],"issn-type":[{"value":"1059-7700","type":"print"},{"value":"1573-3599","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,3]]}}}