{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T13:28:41Z","timestamp":1769347721883,"version":"3.49.0"},"reference-count":24,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2004,6,10]],"date-time":"2004-06-10T00:00:00Z","timestamp":1086825600000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2004,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To present the prenatal diagnosis of <jats:italic>de novo<\/jats:italic> interstitially satellited 6p and a review of the literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case<\/jats:title><jats:p>An amniocentesis was performed at 18 weeks' gestation because of paternal balanced translocation, t(6;14)(p22;p12). Family history of the father showed the derivative chromosomes to be transmitted through at least two generations with three members affected with partial trisomy 6p (6p22 \u2192 6pter).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Cytogenetic analysis of the cultured amniocytes revealed an interstitial insertion of a nucleolar organizer region (NOR) in 6p22 and a karyotype of 46,XX, rec(6)ins(6;14)t(6;14)(6pter \u2192 6p22::14p12 \u219214p12::6p22 \u2192 6qter). Level II ultrasound examinations revealed normal findings. The parents opted to terminate the pregnancy. A 650\u2010g fetus was delivered at 23 weeks' gestation without any gross abnormalities. Cytogenetic analysis of the cord blood lymphocytes confirmed the prenatal diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The present case provides evidence that a <jats:italic>de novo<\/jats:italic> interstitial insertion of a NOR into a nonacrocentric chromosome can be derived from a parental balanced reciprocal translocation involving the satellite stalk region of an acrocentric chromosome. The NOR\u2010inserted chromosome seems to be a harmless variant. However, a <jats:italic>de novo<\/jats:italic> interstitial NOR translocation can be pathogenic if there is genomic disruption at the site of translocation, which should be included in genetic counseling and perinatal investigation. Copyright \u00a9 2004 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.911","type":"journal-article","created":{"date-parts":[[2004,6,10]],"date-time":"2004-06-10T15:01:03Z","timestamp":1086879663000},"page":"430-433","source":"Crossref","is-referenced-by-count":12,"title":["Prenatal diagnosis of interstitially satellited 6p"],"prefix":"10.1002","volume":"24","author":[{"given":"Chih\u2010Ping","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Schu\u2010Rern","family":"Chern","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen\u2010Chi","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen\u2010Lin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wayseen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,6,10]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570311"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(95)00144-1"},{"key":"e_1_2_1_4_1","first-page":"A113","article-title":"Interstitial 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