{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:13:41Z","timestamp":1759688021173,"version":"build-2065373602"},"reference-count":28,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1977,2]]},"abstract":"<jats:p>A girl with severe mental retardation and odd facies and some features of the cri-duchat syndrome was found to have only 45 chromosomes. Her karyotype was 45,XX, -5, -14,+der(5) t(5,14)(p15;q13) mat. Her mother and her two sisters were found to be balanced reciprocal translocation carriers having 46 chromosomes, one of which was a very small (14pter leads to 14q13::5p15leads to 5pter) that was missing in the proposita.<\/jats:p>","DOI":"10.1136\/jmg.14.1.68","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"68-72","source":"Crossref","is-referenced-by-count":7,"title":["Mental retardation with 45 chromosomes 45,XX,--5,--14,+der(5) t(5,14)(p15;q13) mat due to familial balanced reciprocal translocation."],"prefix":"10.1136","volume":"14","author":[{"given":"K","family":"Fried","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Tieder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Beer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Rosenblatt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H I","family":"Krespin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1977,2,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1136\/jmg.10.1.74","article-title":"Human dicentric Y chromosomes. Case report and review of the literature","volume":"10","author":"Cohen, M.M.; MacGillivray, M.H.; Capraro, V.J.; Aceto, T.A.","year":"1973","unstructured":"Cohen, M. M., MacGillivray, M. H., Capraro, V. J., and Aceto, T. A. (1973). Human dicentric Y chromosomes. Case report and review of the literature. Journal of Medical Genetics, 10, 74-79.","journal-title":"Journal of Medical Genetics"},{"key":"ref_2","first-page":"259","article-title":"Dicentric human X chromosomes","volume":"76","author":"de la Chapelle, A.; Stenstrand, K.","year":"1974","unstructured":"de la Chapelle, A. and Stenstrand, K. (1974). Dicentric human X chromosomes. Hereditas, 76, 259-268.","journal-title":"Hereditas"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1111\/j.1399-0004.1972.tb01472.x","article-title":"An abnormal large human chromosome identified as an end-to-end fusion of two X's by combined results of the new banding techniques and microdensitometry","volume":"3","author":"Disteche, C.; Hagemeijer, A.; Frederic, J.; Progneaux, D.","year":"1972","unstructured":"Disteche, C., Hagemeijer, A., Frederic, J., and Progneaux, D. (1972). An abnormal large human chromosome identified as an end-to-end fusion of two X's by combined results of the new banding techniques and microdensitometry. Clinical Genetics, 3, 388-395.","journal-title":"Clinical Genetics"},{"key":"ref_4","first-page":"496","article-title":"Dicentric X isochromosomes in man","volume":"13","author":"Howell, R.T.; Roberts, S.H.; Beard, R.J.","year":"1976","unstructured":"Howell, R. T., Roberts, S. H., and Beard, R. J. (1976). Dicentric X isochromosomes in man. JournalofMedicalGenetics, 13, 496-500.","journal-title":"JournalofMedicalGenetics"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1159\/000130186","article-title":"A 45, XX,5 -,13 -, dic + karyotype in a case of cri-du-chat syndrome","volume":"11","author":"Niebuhr, E.","year":"1972","unstructured":"Niebuhr, E. (1972a). A 45,XX,5 -,13 -,dic + karyotype in a case of cri-du-chat syndrome. Cytogenetics, 11, 165-177.","journal-title":"Cytogenetics"},{"key":"ref_6","first-page":"217","article-title":"Dicentric and monocentric Robertsonian translocations in man","volume":"16","author":"Niebuhr, E.","year":"1972","unstructured":"Niebuhr, E. (1972b). Dicentric and monocentric Robertsonian translocations in man. Humangenetik, 16, 217-226.","journal-title":"Humangenetik"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1136\/jmg.11.2.177","article-title":"Frequency of deletion of short arm satellites in acrocentric chromosomes","volume":"11","author":"Nielsen, J.; Friedrich, V.; Hreidarson, A.B.","year":"1974","unstructured":"Nielsen, J., Friedrich, V., and Hreidarson, A. B. (1974). Frequency of deletion of short arm satellites in acrocentric chromosomes. Journal of Medical Genetics, 11, 177-180.","journal-title":"Journal of Medical Genetics"},{"key":"ref_8","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_9","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1093\/genetics\/37.2.125","article-title":"A transmissible dicentric chromosome","volume":"37","author":"Sears, E.R.; Camara, A.","year":"1952","unstructured":"Sears, E. R. and Camara, A. (1952). A transmissible dicentric chromosome. Genetics, 37, 125-135.","journal-title":"Genetics"},{"key":"ref_10","first-page":"136","article-title":"Dicentric chromosome due to an unusual fusion","volume":"12","year":"1971","unstructured":"Subrt, I., Blehovi, B., and Taborsky, 0. (1971). Dicentric chromosome due to an unusual fusion. Humangenetik, 12, 136-141.","journal-title":"Humangenetik"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1038\/newbio232031a0","article-title":"New technique for distinguishing between human chromosomes","volume":"232","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. Nature New Biology, 232, 31-32.","journal-title":"Nature New Biology"},{"key":"ref_12","first-page":"83","article-title":"Apparently isodicentric but functionally monocentric X chromosome in man","volume":"26","author":"Therman, E.; Sarto, G.E.; Patau, K.","year":"1974","unstructured":"Therman, E., Sarto, G. E., and Patau, K. (1974). Apparently isodicentric but functionally monocentric X chromosome in man. American Journal of Human Genetics, 26, 83-92.","journal-title":"American Journal of Human Genetics"},{"key":"ref_13","first-page":"439","article-title":"A stable human dicentric chromosome, tdic( 12: 14) (pl3:pl3) including an intercalary satellite region between centromeres","volume":"25","author":"Warburton, D.; Henderson, A.S.; Shapiro, L.R.; Hsu, L.Y.F.","year":"1973","unstructured":"Warburton, D., Henderson, A. S., Shapiro, L. R., and Hsu, L. Y. F. (1973). A stable human dicentric chromosome, tdic(12:14) (pl3:pl3) including an intercalary satellite region between centromeres. American_Journal of Human Genetics, 25, 439-445.","journal-title":"American_Journal of Human Genetics"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1111\/j.1399-0004.1975.tb00332.x","article-title":"Symptoms of Turner's syndrome and interstitial heterochromatin in i(Xq)","volume":"7","author":"Yanagisawa, S.; Yokoyama, H.","year":"1975","unstructured":"Yanagisawa, S. and Yokoyama, H. (1975). Symptoms of Turner's syndrome and interstitial heterochromatin in i(Xq). Clinical Genetics, 7, 299-303.","journal-title":"Clinical Genetics"},{"article-title":"The very few cases of 3: 1 meiotic disjunction resulting in 45 chromosome offspring have been recently reviewed in this journal by Lindenbaum and Bobrow (1975). To the best of our knowledge the present report is the first of a family with a balanced reciprocal translocation involving chromosomes 5 and 14 detected because the proposita was a mentally retarded unbalanced 45 chromosome offspring","author":"A","key":"ref_15","unstructured":"The very few cases of 3:1 meiotic disjunction resulting in 45 chromosome offspring have been recently reviewed in this journal by Lindenbaum and Bobrow (1975). To the best of our knowledge the present report is the first of a family with a balanced reciprocal translocation involving chromosomes 5 and 14 detected because the proposita was a mentally retarded unbalanced 45 chromosome offspring. A"},{"key":"ref_16","article-title":"somewhat similar family with a balanced reciprocal translocation involving chromosomes 4 and 15 has been recently reported by","author":"Cohen et al","year":"1975","unstructured":"somewhat similar family with a balanced reciprocal translocation involving chromosomes 4 and 15 has been recently reported by Cohen et al (1975)."},{"key":"ref_17","unstructured":"Case report The proposita (III.2, Fig. 1) was born on 3 November 1968. The father and mother were 30 and 22 years of age, respectively, at the time of her birth. She was born after a full-term pregnancy. Delivery was by vacuum extraction because of deep transverse arrest of the head. Birthweight was 3800 g. At the age of 1 week she was found to be slightly apathic with cephalohematoma, slightly increased anterior fontanaelle, weak reflex responses, and was thought to have brain damage. She had a weak cry. Her development was slow and she suffered from constipation. When she was admitted to hospital at the age of 9 months because of fever of unknown origin she was still unable to sit and was hypotonic. She was thought to have Hirschsprung's disease, and hypertelorism and epicanthic folds were noted.","article-title":"Case report The proposita (III.2, Fig. 1) was born on 3 November 1968. The father and mother were 30 and 22 years of age, respectively, at the time of her birth. She was born after a full-term pregnancy. Delivery was by vacuum extraction because of deep transverse arrest of the head. Birthweight was 3800 g. At the age of 1 week she was found to be slightly apathic with cephalohematoma, slightly increased anterior fontanaelle, weak reflex responses, and was thought to have brain damage. She had a weak cry. Her development was slow and she suffered from constipation. When she was admitted to hospital at the age of 9 months because of fever of unknown origin she was still unable to sit and was hypotonic. She was thought to have Hirschsprung's disease, and hypertelorism and epicanthic folds were noted"},{"key":"ref_18","article-title":"Cytogenetic studies and family report Chromosome investigations were performed on phytohaemagglutinin stimulated peripheral lymphocytes obtained from the family members. Chromosomal banding was obtained by the ASG method","volume-title":"and\/or the trypsin methods","author":"(Seabright,","year":"1971","unstructured":"Cytogenetic studies and family report Chromosome investigations were performed on phytohaemagglutinin stimulated peripheral lymphocytes obtained from the family members. Chromosomal banding was obtained by the ASG method (Sumner et al, 1971) and\/or the trypsin methods (Seabright, 1971)."},{"key":"ref_19","unstructured":"The mother of the proposita had 46 chromosomes in all the 150 cells counted, with 2 abnormal elements; the identical large marker, morphologically resembling a No. 1, as seen in the proposita, as well as a small acrocentric marker similar to the G group but about twothirds in size (Fig. 4 and 5). Banding techniques showed that the mother was a balanced reciprocal translocation carrier with the following karyotype 46,XX, t(5;14)(5qter-*5p15:: 14q13-14qter;14pter--14ql3:: 5p15-.5pter). The karyotypes of the two normal sisters of the proposita (III.4 and 5, Fig. 1) were identical with that of the mother. The first pregnancy of the mother (III.1) ended in 1967 in a missed abortion, after 6 months of pregnancy, of a macerated female fetus having a weight of 190 g and length of 22 cm.","article-title":"The mother of the proposita had 46 chromosomes in all the 150 cells counted, with 2 abnormal elements; the identical large marker, morphologically resembling a No. 1, as seen in the proposita, as well as a small acrocentric marker similar to the G group but about twothirds in size (Fig. 4 and 5). Banding techniques showed that the mother was a balanced reciprocal translocation carrier with the following karyotype 46, XX, t(5; 14)(5qter-*5p15:: 14q13-14qter; 14pter--14ql3:: 5p15-.5pter). The karyotypes of the two normal sisters of the proposita (III.4 and 5, Fig. 1) were identical with that of the mother. The first pregnancy of the mother (III.1) ended in 1967 in a missed abortion, after 6 months of pregnancy, of a macerated female fetus having a weight of 190 g and length of 22 cm"},{"key":"ref_20","article-title":"The problem of reciprocal translocation and 3: 1 meiotic disjunction resulting in 47-or 45-chromosome offspring has been recently reviewed by Lindenbaum and Bobrow","author":"Case reports 14 14","year":"1975","unstructured":"The problem of reciprocal translocation and 3: 1 meiotic disjunction resulting in 47-or 45-chromosome offspring has been recently reviewed by Lindenbaum and Bobrow (1975). There were only 3 cases with 45 chromosomes derived from a parent heterozygote for a reciprocal translocation. The present case seems to be the first tertiary monosomy segregant 3:1 of the type 45,XX, -5, -14, + der(5)t(5,14)(p:q) though one case of a de novo tertiary monosomy of the same type if not identical has been described by Reinwein and Wolf (1965) and Wolf et al (1966). In the de novo case reported by Capotorti and Ferrante (1966) only the groups of the chromosomes involved in the translocation were identified 45,XY, - B, - D,der(B)t(B;D) (p:q). Those 2 cases as well as our own showed Case reports 14 14","journal-title":"and Wolf et al; There were only 3 cases with 45 chromosomes derived from a parent heterozygote for a reciprocal translocation. The present case seems to be the first tertiary monosomy segregant 3: 1 of the type 45, XX, -5, -14, + der( 5)t(5,14)(p: q) though one case of a de novo tertiary monosomy of the same type if not identical has been described by Reinwein and Wolf"},{"key":"ref_21","first-page":"471","article-title":"Translocazione D\/B in un Lattante con 45 cromosomi e con alcune manifestazione fenotipiche della malattia de 'Cri du chat'","volume":"19","author":"Capotorti, L.; Ferrante, E.","year":"1966","unstructured":"Capotorti, L. and Ferrante, E. (1966). Translocazione D\/B in un Lattante con 45 cromosomi e con alcune manifestazione fenotipiche della malattia de 'Cri du chat'. Acta Paediatrica Latina, 19, 471-488.","journal-title":"Acta Paediatrica Latina"},{"key":"ref_22","first-page":"99","article-title":"An inherited translocation t(4; 15)(pl6; q22) leading to two cases of partial trisomy 15","volume":"18","author":"Cohen, M.M.; Ornoy, A.; Rosenmann, A.; Kohn, G.","year":"1975","unstructured":"Cohen, M. M., Ornoy, A., Rosenmann, A., and Kohn, G. (1975). An inherited translocation t(4;15)(pl6;q22) leading to two cases of partial trisomy 15. Annales de Gdnitique, 18, 99-103.","journal-title":"Annales de Gdnitique"},{"key":"ref_23","first-page":"29","article-title":"Reciprocal translocations in man. 3: 1 Meiotic disjunction resulting in 47-or 45chromosome offspring","volume-title":"J7ournal of Medical Genetics","volume":"12","author":"Lindenbaum, R.H.; Bobrow, M.","year":"1975","unstructured":"Lindenbaum, R. H. and Bobrow, M. (1975). Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47-or 45chromosome offspring. J7ournal of Medical Genetics, 12, 29-43."},{"key":"ref_24","first-page":"797","article-title":"Cri du chat","author":"Reinwein, H.; Wolf, U.","year":"1965","unstructured":"Reinwein, H. and Wolf, U. (1965). 'Cri du chat' with 5\/D-translocation. Lancet, 2, 797."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1016\/S0140-6736(71)90287-X","article-title":"A rapid banding technique for human chromosome","volume":"2","author":"Seabright, M.","year":"1971","unstructured":"Seabright, M. (1971). A rapid banding technique for human chromosome. Lancet, 2, 971-972.","journal-title":"Lancet"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1038\/newbio232031a0","article-title":"New technique for distinguishing between human chromosomes","volume":"232","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. Nature (New Biology), 232, 31-32.","journal-title":"Nature (New Biology)"},{"key":"ref_27","first-page":"63","article-title":"Cri-duchat Syndrome mit Translokation 5\/D","volume":"2","author":"Wolf, U.; Reinwein, H.; Gey, W.; Klose, J.","year":"1966","unstructured":"Wolf, U., Reinwein, H., Gey, W., and Klose, J. (1966). Cri-duchat Syndrome mit Translokation 5\/D. Humangenetik, 2, 63-67.","journal-title":"Humangenetik"},{"key":"ref_28","unstructured":"Examination confirmed the presence of a 16-week pregnancy. When seen at 32 weeks' gestation clinical examination revealed a breech presentation. This presentation was maintained and delivery by elective caesarean section was planned. An abdominal x-ray film, requested to exclude the possibility of gross fetal The patient's mother had had a stillborn hydrocephalic male infant in her first pregnancy in 1938, but no records remain of the details.","article-title":"Examination confirmed the presence of a 16-week pregnancy. When seen at 32 weeks' gestation clinical examination revealed a breech presentation. This presentation was maintained and delivery by elective caesarean section was planned. An abdominal x-ray film, requested to exclude the possibility of gross fetal The patient's mother had had a stillborn hydrocephalic male infant in her first pregnancy in 1938, but no records remain of the details"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.14.1.68","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T17:54:01Z","timestamp":1759686841000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.14.1.68"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1977,2]]},"references-count":28,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1977,2,1]]},"published-print":{"date-parts":[[1977,2]]}},"alternative-id":["10.1136\/jmg.14.1.68"],"URL":"https:\/\/doi.org\/10.1136\/jmg.14.1.68","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1977,2]]}}}