{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:10:04Z","timestamp":1760721004719,"version":"build-2065373602"},"reference-count":17,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1976,4]]},"abstract":"<jats:p>A case of simple trisomy 13, confirmed by G-banded chromosome analysis, is reported in a Caucasian female over 5 years of age. There is no cytogenetic evidence available for mosaicism in the propositus or her parents. The patient's salient clinical features are: profound mental and motor retardation; microcephaly with trigonocephaly; ear malformations; small, sunken eyes; unusual eyebrows; cleft lip and palate; bulbar nose; coloboma iris; polydactyly; unusual dermatoglyphic patterns; large adductor thumbs; enlarged great toes; multiple capillary haemangiomas; club feet; inguinal and umbilical hernias; hyperconvexed fingernails; and seizure disorder.<\/jats:p>","DOI":"10.1136\/jmg.13.2.157","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"157-161","source":"Crossref","is-referenced-by-count":11,"title":["Trisomy 13 in a female over 5 years of age."],"prefix":"10.1136","volume":"13","author":[{"given":"C B","family":"Mankinen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J W","family":"Sears","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1976,4,1]]},"reference":[{"key":"ref_1","first-page":"1006","article-title":"Birth Defects Atlas and Compendium","author":"Bergsma, D.","year":"1973","unstructured":"Bergsma, D. (1973). (Ed.) Birth Defects Atlas and Compendium, p. 1006. Williams and Wilkins, Baltimore."},{"key":"ref_2","first-page":"275","article-title":"Chromosomal analysis of two consecutive abortuses in each of 43 women","volume":"19","author":"Boue, J.G.; Boue, A.","year":"1973","unstructured":"Boue, J. G. and Boue, A. (1973). Chromosomal analysis of two consecutive abortuses in each of 43 women. Humangenetik, 19, 275-280.","journal-title":"Humangenetik"},{"key":"ref_3","first-page":"308","article-title":"Chromosome studies in spontaneous abortions","volume":"26","author":"Carr, D.H.","year":"1965","unstructured":"Carr, D. H. (1965). Chromosome studies in spontaneous abortions. Obstetrics and Gynecology, 26, 308-326.","journal-title":"Obstetrics and Gynecology"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"\"315","DOI":"10.1016\/0014-4827(70)90523-9","article-title":"Differential binding of alkylating flurochromes in human chromosomes","volume":"60","author":"Casperson, T.; Zech, L.; Johansson, C.","year":"1970","unstructured":"Casperson, T., Zech, L., and Johansson, C. (1970). Differential binding of alkylating flurochromes in human chromosomes. Experimental Cell Research, 60, 315-319. Chromosomes: Paris Conference (1971). Standardization in human cytogenetics. Birth Defects: Original Article Series 8, No. 7, 1972, p. 46. National Foundation-March of Dimes, New York.","journal-title":"Experimental Cell Research; Standardization in human cytogenetics"},{"key":"ref_5","first-page":"169","article-title":"The Face in Genetic Disorders","author":"Goodman, R.M.; Gorlin, R.J.","year":"1970","unstructured":"Goodman, R. M. and Gorlin, R. J. (1970). The Face in Genetic Disorders, p. 169. C. V. Mosby, St. Louis."},{"key":"ref_6","first-page":"430","article-title":"Mental Retardation-An Atlas of Diseases with Associated Physical Abnormalities","author":"Holmes, L.B.; Moser, H.W.; Halldorsson, S.; Mack, M.S.; Pant, S.S.; Matzilevich, B.","year":"1972","unstructured":"Holmes, L. B., Moser, H. W., Halldorsson, S., Mack, M. S., Pant, S. S., and Matzilevich, B. (1972). Mental Retardation-An Atlas of Diseases with Associated Physical Abnormalities, p. 430. Macmillan, New York."},{"key":"ref_7","first-page":"160","article-title":"Studies on spontaneous abortions. Fluorescence analysis of abnormal karyotypes","volume":"71","author":"Lauritsen, J.G.; Jonasson, J.; Therkelsen, A.J.; Lass, F.; Lindsten, J.; Petersen, G.B.","year":"1972","unstructured":"Lauritsen, J. G., Jonasson, J., Therkelsen, A. J., Lass, F., Lindsten, J., and Petersen, G. B. (1972). Studies on spontaneous abortions. Fluorescence analysis of abnormal karyotypes. Hereditas, 71, 160-163.","journal-title":"Hereditas"},{"year":"1968","author":"r Magenis, R.E.; Hecht, F.; S., Jr, Milham","key":"ref_8","unstructured":"r Magenis, R. E., Hecht, F., and Milham S. Jr. (1968). Trisomy 13 (D) syndrome: studies on parental age, sex ratio, and survival."},{"key":"ref_9","first-page":"222","article-title":"x journal of","volume":"73","unstructured":":x journal of Pediatrics, 73, 222-228.","journal-title":"Pediatrics"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/0014-4827(60)90138-5","article-title":"Chromosome preparations of leukocytes cultured from human peripheral blood","volume":"20","author":"Moorhead, P.S.; Nowell, P.C.; Mellman, W.J.Battips; M., D.; Hungerford, D.A.","year":"1960","unstructured":"Moorhead, P. S., Nowell, P. C., Mellman, W. J. Battips, D. M., and Hungerford, D. A. (1960). Chromosome preparations of leukocytes cultured from human peripheral blood. Experimental Research, 20, 613-616.","journal-title":"Experimental Research"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/S0140-6736(71)90287-X","article-title":"A rapid banding technique for human chromosomes","volume":"2","author":"Seabright, M.","year":"1971","unstructured":"Seabright, M. (1971). A rapid banding technique for human chromosomes. Lancet, 2, 971-972.","journal-title":"Lancet"},{"key":"ref_12","first-page":"368","article-title":"Recognizable Patterns of Human Malformation","author":"Smith, D.W.","year":"1970","unstructured":"Smith, D. W. (1970). Recognizable Patterns of Human Malformation, p. 368."},{"key":"ref_13","article-title":"New technique for distinguishing between human chromosomes","author":"Sumner, A.T.; Evans, H.J.; Buckland, R.A.","year":"1971","unstructured":"Sumner, A. T., Evans, H. J., and Buckland, R. A. (1971). New technique for distinguishing between human chromosomes."},{"key":"ref_14","article-title":"There have been a number of reports on the occurrence of variable anomalies of ureteric bud development within a kindred (Atwell et al","volume-title":"Nillson, 1960; Rossle, 1942). We report here the rare finding of double kidney, unilateral renal agenesis, and horseshoe kidney in two generations of one family","year":"1974","unstructured":"There have been a number of reports on the occurrence of variable anomalies of ureteric bud development within a kindred (Atwell et al, 1974; Dietel, 1964; Nillson, 1960; Rossle, 1942). We report here the rare finding of double kidney, unilateral renal agenesis, and horseshoe kidney in two generations of one family."},{"key":"ref_15","article-title":"Clinical findings The proband, II.1, was the first daughter of unrelated and healthy Caucasian parents aged 29 and 45 years, respectively. Pregnancy and parturition were uncomplicated and the birthweight was 2900 g. At routine neonatal physical examination (technique of Museles et al, 1971) the left kidney was not palpable; no other defects were detected. Intravenous pyelography (Fig. 1) failed to detect functioning renal tissue on the same side. The presumptive diagnosis was left renal agenesis. At follow-up no additional anomalies were detected. The karyotype was that of a normal female. The second pregnancy resulted in the birth of an apparently healthy boy, II.2, following a normal pregnancy and parturition","volume":"3410","author":"g","year":"2)","unstructured":"Clinical findings The proband, II.1, was the first daughter of unrelated and healthy Caucasian parents aged 29 and 45 years, respectively. Pregnancy and parturition were uncomplicated and the birthweight was 2900 g. At routine neonatal physical examination (technique of Museles et al, 1971) the left kidney was not palpable; no other defects were detected. Intravenous pyelography (Fig. 1) failed to detect functioning renal tissue on the same side. The presumptive diagnosis was left renal agenesis. At follow-up no additional anomalies were detected. The karyotype was that of a normal female. The second pregnancy resulted in the birth of an apparently healthy boy, II.2, following a normal pregnancy and parturition. Birthweight was 3410 g. Physical examination revealed a horseshoe kidney as the only abnormal finding, and both renal scan (Fig. 2) and intravenous pyelography confirmed the diagnosis.","journal-title":"Birthweight was; Physical examination revealed a horseshoe kidney as the only abnormal finding, and both renal scan"},{"key":"ref_16","article-title":"Malformations arising from the ureteric bud are common and, not infrequently, more than one instance of a single anomaly is found in a kindred (Atwell et al","volume-title":"Holmes, 1972; Lenz","year":"1974","unstructured":"Malformations arising from the ureteric bud are common and, not infrequently, more than one instance of a single anomaly is found in a kindred (Atwell et al, 1974; Holmes, 1972; Lenz, 1964; Warkany, 1971). The occurrence of varying anomalies within a kindred is rare, and we have found only four reported instances in which two or more of the three above anomalies were found together. One of these examples was associated with Fanconi's anaemia (Nillson, 1960)."},{"article-title":"The human definitive kidney (metanephros) arises from two embryonic sources. The intermediate (metanephric) mesoderm which differentiates into the nephron and connective tissue of the kidney; and the ureteric (metanephric) bud which arises from the mesonephric (Wolffian) duct, and gives rise to the collecting system of the kidney","year":"1972","key":"ref_17","unstructured":"The human definitive kidney (metanephros) arises from two embryonic sources. The intermediate (metanephric) mesoderm which differentiates into the nephron and connective tissue of the kidney; and the ureteric (metanephric) bud which arises from the mesonephric (Wolffian) duct, and gives rise to the collecting system of the kidney (Potter, 1972; Warkany 1971)."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.13.2.157","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T16:52:23Z","timestamp":1760719943000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.13.2.157"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1976,4]]},"references-count":17,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1976,4,1]]},"published-print":{"date-parts":[[1976,4]]}},"alternative-id":["10.1136\/jmg.13.2.157"],"URL":"https:\/\/doi.org\/10.1136\/jmg.13.2.157","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1976,4]]}}}