{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T15:53:04Z","timestamp":1770997984574,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2005,11,21]],"date-time":"2005-11-21T00:00:00Z","timestamp":1132531200000},"content-version":"vor","delay-in-days":7690,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1984,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The survey of the incidence of chromosome mosaicism and pseudomosaicism detected in prenatal diagnosis included data from approximately 60 000 genetic amniocenteses in the United States. There were 59 participating cytogenetic laboratories nationwide. The overall incidence of chromosome mosaicism was 0.25 per cent (range of 0\u20130.89 per cent). The average frequency of pseudomosaicism involving multiple cells or clones was 0.7 per cent (range of 0\u201311.21 per cent). The frequency of single cell or clone pseudomosaicism was 2.47 per cent (range of 0\u201311.49 per cent). In cases of pseudomosaicism with trisomy, the most frequently involved chromosome was number 2; occurrence rates of trisomies 7,X,9,17 and 20 were also relatively high. In cases of pseudomosaicism with structural abnormalities, this survey showed an association between relative chromosome size and the frequency of involvement in structural rearrangement. Data on a total of 185 cases of chromosome mosaicism collected in this survey as well as from other documented sources showed 89 cases involved an autosome, 13 cases a sex chromosome, and 23 a marker chromosome. The frequency of noticeable phenotypic abnormalities was highest (37.8 per cent) in the autosomal mosaics and lowest (10.5 per cent) in the sex chromosome mosaics. The average rate for cytogenetic confirmation was 70 per cent.<\/jats:p>","DOI":"10.1002\/pd.1970040708","type":"journal-article","created":{"date-parts":[[2007,3,3]],"date-time":"2007-03-03T23:47:27Z","timestamp":1172965647000},"page":"97-130","source":"Crossref","is-referenced-by-count":180,"title":["United states survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis"],"prefix":"10.1002","volume":"4","author":[{"given":"Lillian Y. F.","family":"Hsu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Theresa E.","family":"Perlis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,11,21]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80021-1"},{"key":"e_1_2_1_3_1","first-page":"3","article-title":"Le clonage des cellules duliquide amniotique, aide dans l'interpretation des mosaiques chromosomiques en diagnostic prenatal","volume":"22","author":"Bou\u00e9 J.","year":"1979","journal-title":"Annales de Genetique"},{"key":"e_1_2_1_4_1","unstructured":"Cantu J. M. De C. Stillo V. Kopelivich\u2010Chametz M. Lara\u2010Ricalde R. Martinez\u2010 Bracamontes G. Alvares R. Armenares S.(1975).The pregnancy in women over 40 years of age. A gyneco\u2010obstetric pediatric cytogenetic and socio\u2010economic evaluation. Birth Defects Conference Kansas City."},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1973.tb01928.x"},{"key":"e_1_2_1_6_1","unstructured":"Hamerton J. L. Bou\u00e9 A. Cohen M. M. de la Chapelle A. Hsu L. Y. Linsten J. Mikkelsesen M. Robinson A. Stengel\u2010Rutkowski D. Webb T. Willey A. Worton R.(1980).Chromosome disease. In: Hamerton J. L. Simpson N. (Eds). Prenatal Diagnosis\u2013Past Present and Future (Report of an International Workshop) Prenatal Diagnosis Special Issue."},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1111\/j.1399-0004.1975.tb01498.x","article-title":"A cytogenetic survey of 14,069 newborn infants","volume":"8","author":"Hamerton J. L.","year":"1975","journal-title":"Clin. Genet."},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291918"},{"key":"e_1_2_1_9_1","first-page":"96","article-title":"Exclusion of chromosome mosaicism: Tables of 90%, 95% and 99% confidence limits and comments on use","volume":"29","author":"Hook E. B.","year":"1977","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320020407"},{"key":"e_1_2_1_11_1","first-page":"3","volume-title":"Prenatal Medicine Today","author":"Hsu L. Y. F.","year":"1980"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1974.tb01843.x"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(77)80745-2"},{"key":"e_1_2_1_14_1","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1111\/j.1399-0004.1979.tb00978.x","article-title":"Prenatal diagnosis of trisomy 20 mosaicism","volume":"12","author":"Kardon N.","year":"1979","journal-title":"Clin. Genet."},{"key":"e_1_2_1_15_1","first-page":"85A","article-title":"Mosaicism and non\u2010modal cells in amniotic fluid cultures","volume":"30","author":"King C. R.","year":"1978","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.2.120"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970010210"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(76)81035-9"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb01776.x"},{"key":"e_1_2_1_20_1","unstructured":"Nisani R. Rappaport S. Felsenburg T. Chemke J.(1981).Trisomy 20 mosaicism in amniotic fluid cell cultures. Poster session 19\u201016 Abstracts of the 6th International Congress of Human Genetics Jerusalem Israel Sept. 13\u201318 301."},{"key":"e_1_2_1_20_2","series-title":"Birth Defects. Original Article Series","year":"1971"},{"key":"e_1_2_1_21_1","first-page":"149","article-title":"Chromosomal mosaicism in amniotic fluid cell cultures","volume":"31","author":"Peakman D. C.","year":"1979","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.3.166"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb04245.x"},{"issue":"3","key":"e_1_2_1_24_1","first-page":"249","article-title":"Mosaicism in amniotic fluid cell cultures","author":"Rudd N. L.","year":"1976","journal-title":"Birth Defects: Original Article Series"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb01205.x"},{"key":"e_1_2_1_26_1","first-page":"90A","article-title":"Spurious cells in amniotic cell cultures from multiple laboratorios","volume":"32","author":"Summit R. L.","year":"1980","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1975.tb00348.x"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1970040708","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1970040708","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,11]],"date-time":"2024-02-11T11:30:21Z","timestamp":1707651021000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1970040708"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,11]]},"references-count":27,"journal-issue":{"issue":"7","published-print":{"date-parts":[[1984,11]]}},"alternative-id":["10.1002\/pd.1970040708"],"URL":"https:\/\/doi.org\/10.1002\/pd.1970040708","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[1984,11]]}}}