{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T19:50:43Z","timestamp":1762458643171,"version":"build-2065373602"},"reference-count":20,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,5]]},"abstract":"<jats:p>We report a case of an unusual prenatal presentation of polycystic kidneys associated with multiple skeletal limb defects, including polydactyly, syndactyly, bilateral agenesis of the tibia, and club foot. The ultrasonographic picture was consistent with a diagnosis of polycystic kidney disease, either the adult onset autosomal dominant type (ADPKD) or the early onset autosomal recessive form (ARPKD). However, there was a positive family history for ADPKD. Linkage analysis was performed in 10 family members, of whom four were affected, using six flanking DNA markers tightly linked to the PKD1 locus on chromosome 16p, and one marker linked to the putative PKD2 locus on chromosome 2p. Lod score determinations indicated that the affected gene in the family is most likely PKD1. The patient inherited the disease linked haplotype from his affected mother.<\/jats:p>","DOI":"10.1136\/jmg.30.5.419","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"419-422","source":"Crossref","is-referenced-by-count":25,"title":["Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformations."],"prefix":"10.1136","volume":"30","author":[{"given":"A E","family":"Turco","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E M","family":"Padovani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G P","family":"Chiaffoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Peissel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Rossetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Marcolongo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Gammaro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Maschio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P F","family":"Pignatti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1993,5,1]]},"reference":[{"key":"ref_1","first-page":"5424","article-title":"A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16","volume":"317","author":"Reeders, S.T.; Breuning, M.H.; Davies, K.E.","year":"1985","unstructured":"Reeders ST, Breuning MH, Davies KE, et al. A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 1985;317:5424.","journal-title":"Nature"},{"key":"ref_2","first-page":"58","article-title":"Genetic heterogeneity of polycystic kidney disease: an estimate of the proportions of families unlinked to chromosome 16","volume":"45","author":"Pieke, S.A.; Kimberling, W.J.; Kenyon, J.B.; Gabow, P.","year":"1989","unstructured":"Pieke SA, Kimberling WJ, Kenyon JB, Gabow P. Genetic heterogeneity of polycystic kidney disease: an estimate of the proportions of families unlinked to chromosome 16. Am J Hum Genet 1989;45:58A.","journal-title":"Am J Hum Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1111\/j.1399-0004.1991.tb03098.x","article-title":"Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease, and for the determination of genetic heterogeneity in Italian families","volume":"40","author":"Turco, A.; Peissel, B.; Gammaro, L.; Maschio, G.; Pignatti, P.F.","year":"1991","unstructured":"Turco A, Peissel B, Gammaro L, Maschio G, Pignatti PF. Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease, and for the determination of genetic heterogeneity in Italian families. Clin Genet 1991;40:287-97.","journal-title":"Clin Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/0140-6736(90)91870-G","article-title":"Possible locus for polycystic kidney disease on chromosome 2","volume":"336","author":"Norby, S.; Schwartz, M.","year":"1990","unstructured":"Norby S, Schwartz M. Possible locus for polycystic kidney disease on chromosome 2. Lancet 1990;336:323-4.","journal-title":"Lancet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1136\/jmg.24.8.466","article-title":"Adult polycystic kidney disease and linked RFLPs at the oa globin locus: a genetic study in the South Wales population","volume":"24","author":"Lazarou, L.P.; Davies, F.; Sarfarazi, M.; Coles, G.A.; Harper, P.S.","year":"1987","unstructured":"Lazarou LP, Davies F, Sarfarazi M, Coles GA, Harper PS. Adult polycystic kidney disease and linked RFLPs at the oa globin locus: a genetic study in the South Wales population. J Med Genet 1987;24:466-73.","journal-title":"J Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"249","DOI":"10.7863\/jum.1987.6.5.249","article-title":"Diagnosis of autosomal dominant polycystic kidney disease in utero and in the young infant","volume":"6","author":"Pretorius, D.H.; Lee, M.E.; Manco-Johnson, M.L.; Weingast, G.R.; Sedman, A.B.; Gabow, P.A.","year":"1987","unstructured":"Pretorius DH, Lee ME, Manco-Johnson ML, Weingast GR, Sedman AB, Gabow PA. Diagnosis of autosomal dominant polycystic kidney disease in utero and in the young infant. J Ultrasound Med 1987;6:249-55.","journal-title":"J Ultrasound Med"},{"key":"ref_7","first-page":"75","article-title":"Autosomal dominant polycystic kidney disease: prenatal diagnosis by DNA analysis and sonography at 14 weeks","volume-title":"Prenat Diagn","volume":"9","author":"Ceccherini, I.; Lituania, M.; Cordone, M.S.","year":"1989","unstructured":"Ceccherini I, Lituania M, Cordone MS, et al. Autosomal dominant polycystic kidney disease: prenatal diagnosis by DNA analysis and sonography at 14 weeks. Prenat Diagn 1989;9:75 1-8."},{"key":"ref_8","first-page":"898","article-title":"Infantile polycystic kidney disease (IPKD)","volume":"26","author":"Thomson, P.D.; Isdale, J.M.","year":"1984","unstructured":"Thomson PD, Isdale JM. Infantile polycystic kidney disease (IPKD). Kidney Int 1984;26:898.","journal-title":"Kidney Int"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1007\/BF00291714","article-title":"Mutations for the autosomal recessive and autosomal dominant forms of polycystic kidney disease are not allelic","volume":"79","author":"Ramsay, M.; Reeders, S.T.; Thomson, P.D.","year":"1988","unstructured":"Ramsay M, Reeders ST, Thomson PD, et al. Mutations for the autosomal recessive and autosomal dominant forms of polycystic kidney disease are not allelic. Hum Genet 1988;79:73-5.","journal-title":"Hum Genet"},{"key":"ref_10","first-page":"603","article-title":"Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene","volume":"27","author":"Breuning, M.H.; Snijdewint, F.G.M.; Brunner, H.","year":"1990","unstructured":"Breuning MH, Snijdewint FGM, Brunner H, et al. Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD 1). 7 Med Genet 1990;27:603-13.","journal-title":"Genet"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1484","DOI":"10.1016\/0140-6736(91)92300-Q","article-title":"Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker","volume":"338","author":"Harris, P.; Thomas, S.; Ratcliffe, P.J.; Breuning, M.H.; Coto, E.; Lopez-Larrea, C.","year":"1991","unstructured":"Harris P, Thomas S, Ratcliffe PJ, Breuning MH, Coto E, Lopez-Larrea C. Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker. Lancet 1991;338:1484-7.","journal-title":"Lancet"},{"key":"ref_12","first-page":"23","article-title":"Polycystic kidney disease in childhood","volume-title":"Seminar on cystic renal disease","author":"Gagnadoux, M.F.; Habib, R.; Levy, M.; Broyer, M.","year":"1989","unstructured":"Gagnadoux MF, Habib R, Levy M, Broyer M. Polycystic kidney disease in childhood. In: Sessa A, Conte F, Serbelloni P, Battini G, eds. Seminar on cystic renal disease. Milano: Wichtig Editore, 1989:23-8."},{"key":"ref_13","first-page":"110","article-title":"Polycystic kidney disease: neoplasia in disguise","volume":"2","author":"Grantham, J.J.","year":"1990","unstructured":"Grantham JJ. Polycystic kidney disease: neoplasia in disguise. AmjKidneyDis 1990;2:110-16.","journal-title":"AmjKidneyDis"},{"key":"ref_14","first-page":"557","article-title":"Polycystic disease","volume-title":"Pediatric kidney disease","author":"Bernstein, J.","year":"1978","unstructured":"Bernstein J. Polycystic disease. In: Edelman CM, ed. Pediatric kidney disease. Boston: Little, Brown and Co, 1978:557-70."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1007\/BF00973811","article-title":"Dominantly-inherited polycystic kidneys in infants: association with hypertrophic pyloric stenosis","volume":"6","author":"Loh, J.P.; Haller, J.O.; Kassner, E.G.; Aloni, A.; Glassberg, K.","year":"1977","unstructured":"Loh JP, Haller JO, Kassner EG, Aloni A, Glassberg K. Dominantly-inherited polycystic kidneys in infants: association with hypertrophic pyloric stenosis. Pediatr Radiol 1977;6:27-30.","journal-title":"Pediatr Radiol"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1007\/BF00388467","article-title":"Prenatal diagnosis of genetically determined early manifestation of autosomal dominant polycystic disease?","volume":"71","author":"Zerres, K.; Hansmann, M.; Knopfie, G.; Stephan, M.","year":"1985","unstructured":"Zerres K, Hansmann M, Knopfie G, Stephan M. Prenatal diagnosis of genetically determined early manifestation of autosomal dominant polycystic disease? Hum Genet 1985;71:368-9.","journal-title":"Hum Genet"},{"key":"ref_17","first-page":"4289","article-title":"CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5' end of a gene encoding a","volume-title":"putative proton channel. Proc Natl Acad Sci","volume":"88","author":"Gillespie, G.A.J.; Somlo, S.; Germino, G.G.; Weinstat-Saslow, D.; Reeders, S.T.","year":"1991","unstructured":"Gillespie GAJ, Somlo S, Germino GG, Weinstat-Saslow D, Reeders ST. CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5' end of a gene encoding a putative proton channel. Proc Natl Acad Sci USA 1991;88:4289-93."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1126\/science.1536004","article-title":"Genetic linkage: interpreting lod scores","volume":"255","author":"Risch, N.","year":"1992","unstructured":"Risch N. Genetic linkage: interpreting lod scores. Science 1992;255:803-4.","journal-title":"Science"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1016\/0140-6736(91)90797-S","article-title":"Treatable complications in undiagnosed cases of autosomal dominant polycystic kidney disease","volume":"337","author":"Ravine, D.; Walker, R.G.; Gibson, R.N.; Sheffield, L.J.; KincaidSmith, P.; Danks, D.M.","year":"1991","unstructured":"Ravine D, Walker RG, Gibson RN, Sheffield LJ, KincaidSmith P, Danks DM. Treatable complications in undiagnosed cases of autosomal dominant polycystic kidney disease. Lancet 1991;337:127-9.","journal-title":"Lancet"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1161\/01.STR.21.2.291","article-title":"Intracranial hemorrhage in patients with polycystic kidney disease","volume":"21","author":"Ryu, S.J.","year":"1990","unstructured":"Ryu SJ. Intracranial hemorrhage in patients with polycystic kidney disease. Stroke 1990;21:291-4.","journal-title":"Stroke"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.30.5.419","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:13:31Z","timestamp":1760739211000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.30.5.419"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,5]]},"references-count":20,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1993,5,1]]},"published-print":{"date-parts":[[1993,5]]}},"alternative-id":["10.1136\/jmg.30.5.419"],"URL":"https:\/\/doi.org\/10.1136\/jmg.30.5.419","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1993,5]]}}}