{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T05:53:00Z","timestamp":1698213180308},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":6060,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1988,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Distinguishing between balanced and unbalanced chromosome complements segregating from parental rearrangements may be difficult using only classical cytogenetic techniques if banding morphology is similar under both expectations. In these situations, supplementing cytogenetic analysis with molecular genetic techniques and flow cytometry may provide increased diagnostic accuracy. To illustrate this, we present a case in which similar band pattern morphology would be expected for both the balanced carrier (heterozygote) and the recombinant dup q chromosome complements segregating from a mother with a balanced inversion [46,XX,inv(5)(p13q33)]. The parents came to Northwestern for consultation after receiving conflicting interpretations of their first amniotic fluid cultures. An ultrasound examination was said to be normal. They inquired whether there were ways to increase their confidence that the complement was unbalanced. Their reluctance to terminate the pregnancy was due to a 6\u2010year history of infertility. After extensive counselling, the couple elected repeat amniocentesis. Further cytogenetic analysis of repeat amniotic fluid cultures by G\u2010banding and R\u2010banding, molecular genetic analysis with highly polymorphic DNA probes, and quantitative flow cytometry were performed. Results agreed that an <jats:italic>unbalanced<\/jats:italic> fetal complement was present. Southern blot analysis with a 5p marker definitively demonstrated a lack of maternal 5p material in the fetus, and in situ hybridization showed a 5q marker at either end of the recombinant chromosome. Flow cytometry was consistent with this interpretation, Because of the advanced gestational age, the parents elected to terminate based on cytogenetic results of the second amniocentesis, rather than to wait another 1\u20132 weeks for results of other methods. Although not determinative of this pregnancy outcome, this correspondence provides reassurance that, in cases when banding analysis may be more difficult or inconclusive, other methods are accurate supplements to classical cytogenetics.<\/jats:p>","DOI":"10.1002\/ajmg.1320310320","type":"journal-article","created":{"date-parts":[[2005,9,6]],"date-time":"2005-09-06T13:27:33Z","timestamp":1126013253000},"page":"643-654","source":"Crossref","is-referenced-by-count":16,"title":["Prenatal detection of 46,XY,rec(5),dup q, inv(5)(p13q33) using DNA analysis, flow cytometry, and in situ hybridization to supplement classical cytogenetic analysis"],"prefix":"10.1002","volume":"31","author":[{"given":"A. O.","family":"Martin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Northrup","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. 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W.","family":"Gray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Sekhon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Krassikoff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Booth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb04369.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/26.8.357646"},{"key":"e_1_2_1_4_1","first-page":"103A","article-title":"Recombinant of inversion 5","volume":"27","author":"Ebbin AJ","year":"1979","journal-title":"Clin Res"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130206"},{"key":"e_1_2_1_6_1","first-page":"6","article-title":"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity","volume":"132","author":"Feinberg AD","year":"1983","journal-title":"Biochemistry"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00294840"},{"key":"e_1_2_1_8_1","volume-title":"International System for Human Cytogenetic Nomenclature","year":"1985"},{"key":"e_1_2_1_9_1","first-page":"561","article-title":"Molecular genetic approaches to human diseases involving mental retardation","volume":"88","author":"Latt SA","year":"1984","journal-title":"Am J Mental Defic"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/312070a0"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.3479843"},{"key":"e_1_2_1_12_1","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1055\/s-2007-1000058","article-title":"Clinical implications of chromosomal inversions","volume":"1","author":"Martin AO","year":"1983","journal-title":"Am J Perinatol"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283634"},{"key":"e_1_2_1_14_1","first-page":"562","article-title":"A fine structure physical map of the short arm of chromosome 5","volume":"39","author":"Overhauser J","year":"1986","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/15.11.4617"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb00608.x"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132011"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2836(75)80083-0"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/cyto.990060203"},{"key":"e_1_2_1_20_1","doi-asserted-by":"crossref","unstructured":"van den EnghG TraskB LansdropP GrayJ(1988):Improved resolution of flow cytometric measurements of Hoechst 33258 and chromomycin A3\u2010stained human chromosomes after addition of citrate and sulfite. 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