{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:10:17Z","timestamp":1760767817491,"version":"build-2065373602"},"reference-count":13,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1978,10]]},"abstract":"<jats:p>The interstitial deletion of a segment of chromosome 13, 13q21 leads to 13q22, and its inversion and insertion into the long arm of chromosome 3 at breakpoint q12, was found to segregate in 3 generations of a family. Segregation of this 3 break rearrangement gave rise to individuals monosomic, trisomic, or balanced for the involved segment. Monosomy for 13q21 leads to 13q22 was associated with mental retardation, expressive aphasia, microcephaly, hand abnormalities, and short stature. Partially trisomic individuals had normal mentality, extremely high arched palate, and mild dysmorphic features. There was no evidence for retinoblastoma in the individuals examined. The balanced carriers were normal. Comparison of monosomic individuals with one previous report of a similar deletion reveals marked phenotypic similarities.<\/jats:p>","DOI":"10.1136\/jmg.15.5.382","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"382-387","source":"Crossref","is-referenced-by-count":25,"title":["Segregation of an insertional chromosome rearrangement in 3 generations."],"prefix":"10.1136","volume":"15","author":[{"given":"K E","family":"Toomey","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Mohandas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R S","family":"Sparkes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M M","family":"Kaback","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D L","family":"Rimoin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1978,10,1]]},"reference":[{"issue":"428432","key":"ref_1","article-title":"'Cri du chat' syndrome with maternal insertional translocation","volume":"5","author":"Berger, R.; Touati, G.; Derre, J.","year":"1974","unstructured":"Berger, R., Touati, G., and Derre, J. (1974). 'Cri du chat' syndrome with maternal insertional translocation. Clinical Genetics, 5,428432.","journal-title":"Clinical Genetics"},{"key":"ref_2","first-page":"60","article-title":"Differential binding of alkylating fluorochromes in human chromosomes","author":"Caspersson, T.; Zech, L.; Johansson, C.","year":"1970","unstructured":"Caspersson, T., Zech, L., and Johansson, C. (1970). Differential binding of alkylating fluorochromes in human chromosomes. Experimental Cell Research, 60,315-319.","journal-title":"Experimental Cell Research"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1136\/jmg.11.4.353","article-title":"Familial mental retardation in a family with an inherited chromosome rearrangement","volume":"11","author":"Chudley, A.E.; Bauder, F.; Ray, M.; McAlpine, P.J.; Pena, S.D.J.; Hamerton, J.L.","year":"1974","unstructured":"Chudley, A. E., Bauder, F., Ray, M., McAlpine, P. J., Pena, S. D. J., and Hamerton, J. L. (1974). Familial mental retardation in a family with an inherited chromosome rearrangement. Journal of Medical Genetics, 11, 353-362.","journal-title":"Journal of Medical Genetics"},{"key":"ref_4","article-title":"Retinoblastoma and chromosome 13","author":"Francke, U.","year":"1976","unstructured":"Francke, U. (1976). Retinoblastoma and chromosome 13. Birth"},{"issue":"7","key":"ref_5","first-page":"\"131","article-title":"Defects: Original Article","volume":"12","author":"York. Grace, E.; Sutherland, G.R.; Bain, A.D.","year":"1972","unstructured":"Defects: Original Article Series, 12, No. 7, 131-134. The National Foundation-March of Dimes, New York. Grace, E., Sutherland, G. R., and Bain, A. D. (1972). Familial insertional translocation. Lancet, 2, 231.","journal-title":"Series; The National Foundation-March of Dimes"},{"key":"ref_6","article-title":"An interstitial translocation chromosome","author":"Gray, J.E.; Syrett, J.E.; Ritchie, K.M.","year":"1972","unstructured":"Gray, J. E., Syrett, J. E., and Ritchie, K. M. (1972). An interstitial translocation chromosome, no. lp to 4q. Lancet, 2,92-93."},{"key":"ref_7","first-page":"27","article-title":"Annotation. Functional irnplications of differential chromosome banding","author":"Hoehn, H.","year":"1975","unstructured":"Hoehn, H. (1975). Annotation. Functional irnplications of differential chromosome banding. American Journal ofHuman Genetics, 27,676-686.","journal-title":"American Journal ofHuman Genetics"},{"key":"ref_8","first-page":"50","article-title":"An analysis of break points of structural rearrangements in man","volume":"11","author":"Jacobs, P.A.; Buckton, K.E.; Cunningham, C.; Newton, M.","year":"1974","unstructured":"Jacobs, P. A., Buckton, K. E., Cunningham, C., and Newton, M. (1974). An analysis of break points of structural rearrangements in man. Annals ofHuman Genetics, 11, 50-64.","journal-title":"Annals ofHuman Genetics"},{"key":"ref_9","first-page":"295","article-title":"Chromosome deletion and retinoblastoma","volume":"ofMedicine,","author":"Knudson, A.G.; Meadows, A.T.; Nichols, W.W.; Hill, R.","year":"1976","unstructured":"Knudson, A. G., Meadows, A. T., Nichols, W. W., and Hill, R. (1976). Chromosome deletion and retinoblastoma. New England Journal ofMedicine, 295,1120-1123.","journal-title":"New England Journal"},{"key":"ref_10","first-page":"\"pp. 78","article-title":"Type et contretypes. Journe'es Parisiennes de Pediatrie","volume":"25","author":"LeJeune, J.","year":"1966","unstructured":"LeJeune, J. (1966). Type et contretypes. Journe'es Parisiennes de Pediatrie, pp. 78-83. Cited in Warren, R. J., Rimoin, D. L., and Summitt, R. L. (1973). Identification by fluorescent microscopy of the abnormal chromosomes associated with the G-deletion syndromes. American Journal ofHuman Genetics, 25, 77-81.","journal-title":"American Journal ofHuman Genetics; Identification by fluorescent microscopy of the abnormal chromosomes associated with the G-deletion syndromes"},{"issue":"7","key":"ref_11","first-page":"159","article-title":"Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations","volume":"8","author":"York. Rethore, M. O., LeJeune, J., Carpentier, S., Prieur, M., Dutrillaux, B., Sevinge, P. H., Rossier, A., and Job, J.","year":"1976","unstructured":"Noel, B., Quack, B., and Rethore, M. 0. (1976). Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations. Clinical Genetics, 9,593-602. Paris Conference (1971). Standardization in human cytogenetics. Birth Defects: Original Article Series, 8, No. 7, 1972. The National Foundation-March of Dimes, New York. Rethore, M. O., LeJeune, J., Carpentier, S., Prieur, M., Dutrillaux, B., Sevinge, P. H., Rossier, A., and Job, J. C., (1972). Trisomie pour la partie distale du bras court du chromosome 3 chez trois germains. Annales de Genetique, 15, 159-165.","journal-title":"Clinical Genetics, 9,593-602. Paris Conference; Standardization in human cytogenetics. Birth Defects: Original Article"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1007\/BF00399426","article-title":"High resolution studies of the pattern of induced exchanges in the human karyotype","volume":"40","author":"Seabright, M.","year":"1973","unstructured":"Seabright, M. (1973). High resolution studies of the pattern of induced exchanges in the human karyotype. Chromosome, 40, 333-346.","journal-title":"Chromosome"},{"key":"ref_13","first-page":"2","article-title":"Interstitial translocation in man","author":"Shapiro, L.R.; Warburton, D.","year":"1972","unstructured":"Shapiro, L. R., and Warburton, D. (1972). Interstitial translocation in man. 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