{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T16:22:00Z","timestamp":1698337320797},"reference-count":20,"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":4526,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1993,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A family with two siblings, 10 and 8 years old, both with clinical and ultrastructural evidence of juvenile neuronal ceroid lipofuscinosis is described. The family was found to be informative for the restriction fragment length polymorphisms (RFLPs) detected by the probes pCJ52\u201395Ml (locus D16S148) and pCJ52\u201094Tl (locus D16S159) flanking the juvenile neuronal ceroid lipofuscinosis locus, CLN3. The parents were both heterozygous using these probes, while their two children with juvenile neuronal ceroid lipofuscinosis were both homozygous. Chorionic villi analysis showed that the fetus was heterozygous and had inherited the one allele of the mother which was not found in the two siblings. This suggested that the fetus had derived one healthy allele from the mother, the risk for a double crossing\u2010over being less than 1 per cent. Electron microscopy showed no fingerprint inclusions in chorionic villi. The child was investigated at 6 months of age and found to be healthy, as new fingerprint inclusions were found at electron microscopy and no vacuolated lymphocytes were found in the blood smear. Due to the risk of heterogeneity, both DNA\u2010based analysis and electron microscopy on chorionic villi are recommended for prenatal examination for juvenile neuronal ceroid lipofuscinosis.<\/jats:p>","DOI":"10.1002\/pd.1970130717","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T06:48:04Z","timestamp":1172990884000},"page":"651-657","source":"Crossref","is-referenced-by-count":8,"title":["Successful DNA\u2010based prenatal exclusion of juvenile neuronal ceroid lipofuscinosis"],"prefix":"10.1002","volume":"13","author":[{"given":"Paul","family":"Uvebrant","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Bj\u00f6rck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nils","family":"Conradi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Klas\u2010Henry","family":"H\u00f6keg\u00e5rd","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tommy","family":"Martinsson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Wahlstr\u00f6m","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","first-page":"1372","article-title":"Regional mapping of the Batten disease locus (CLN3) to human 16 p12","volume":"49","author":"Callen D. 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