{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:48:28Z","timestamp":1760906908361},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2005,11,21]],"date-time":"2005-11-21T00:00:00Z","timestamp":1132531200000},"content-version":"vor","delay-in-days":4921,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1992,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This paper reports a case of chromosomal mosaicism for trisomy 5 recovered from amniotic fluid cells and from skin fibroblasts of a liveborn dysmorphic male. Routine amniocentesis was performed at 16 weeks' gestation because of parental concern. Trisomy 5 cells were measured from 25 per cent of amniocytes from two culture vessels. No further invasive testing was performed until 32 weeks' gestation, at which time ultrasound examination showed fetus with intrauterine growth retardation. Fetal blood sampling was then performed, with only karyotypically normal cells recovered. At birth, the child was found to have multiple dysmorphic features and congenital anomalies, including an eventration of the diaphragm and ventricular septal defect, both of which required surgical correction. Chromosomal analysis of cord blood lymphocytes indicated 46,XY; however, 20 per cent of the cultured fibroblasts obtained from the chest skin at the incision site for diaphragmatic repair had a 47,XY,+5 karyotype. Trisomy 5 mosaicism may be another example of tissue\u2010limited mosaicism. Fetal blood sampling can then be falsely reassuring. Furthermore, because some cell lines rarely appear in lymphocyte populations, cytogenetic analysis of multiple tissues warranted as part of the evaluation of individuals with developmental delay and dysmorphic features.<\/jats:p>","DOI":"10.1002\/pd.1970120602","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T06:15:32Z","timestamp":1172988932000},"page":"477-482","source":"Crossref","is-referenced-by-count":20,"title":["Trisomy 5 mosaicism detected prenatally with an affected liveborn"],"prefix":"10.1002","volume":"12","author":[{"given":"Leonard J.","family":"Sciorra","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles","family":"Hux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Debra","family":"Day\u2010Salvadore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming\u2010Liang","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David E.","family":"Mandelbaum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheila","family":"Brady\u2010Yasbin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie","family":"Frybury","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurice J.","family":"Mahoney","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miriam Schoenfeld","family":"Dimaio","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":"10.1111\/j.1399-0004.1989.tb02944.x"},{"key":"e_1_2_1_3_1","first-page":"A1064","article-title":"Prenatal diagnosis of trisomy 2 confirmed in foreskin fibroblasts","volume":"47","author":"Casey J.","year":"1990","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_4_1","first-page":"A218","article-title":"Mosaic trisomy 16 in a minimally dysmorphic child: clinical, cytogenetic and molecular studies","volume":"47","author":"Greally J. M.","year":"1990","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.65.4_Spec_No.388"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970040708"},{"key":"e_1_2_1_7_1","first-page":"A1093","article-title":"Should guidelines for analysis of mosaicism in amniocytes be revised?","volume":"47","author":"Hsu L. Y. F.","year":"1990","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970110103"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00272385"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970070211"},{"key":"e_1_2_1_11_1","first-page":"A42","article-title":"Mosaicism for i(12p) in Pallister\u2010Killian syndrome arises both by in vivo loss and selective cell divisions in vitro","volume":"47","author":"Thornberg F. L.","year":"1990","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/1050-3862(91)90051-R"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310416"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970040709"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1970120602","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1970120602","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T09:05:55Z","timestamp":1698051955000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1970120602"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,6]]},"references-count":13,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1992,6]]}},"alternative-id":["10.1002\/pd.1970120602"],"URL":"https:\/\/doi.org\/10.1002\/pd.1970120602","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,6]]}}}