{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T05:40:13Z","timestamp":1760766013517,"version":"build-2065373602"},"reference-count":15,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,10]]},"abstract":"<jats:p>A newborn infant is reported who had aganglionic megacolon, renal hypoplasia, severe growth retardation, generalised hypotonia, and various dysmorphic features. Chromosome analysis of lymphocytes and fibroblasts showed a ring chromosome 10 with breakpoints at p13-15 and q26. AluI digestion showed that the ring chromosome was monocentric. FISH with an alpha satellite probe specific for chromosome 10 showed one signal only in about 20% of interphase nuclei. It is suggested that aganglionic megacolon could result from dynamic somatic mosaicism owing to loss of the ring chromosome.<\/jats:p>","DOI":"10.1136\/jmg.31.10.804","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"804-806","source":"Crossref","is-referenced-by-count":15,"title":["A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia."],"prefix":"10.1136","volume":"31","author":[{"given":"G","family":"Calabrese","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P G","family":"Franchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Stuppia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Mingarelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Rossi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Ramenghi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Marino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Morizio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Peila","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Antonucci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1994,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1038\/367319a0","article-title":"One gene - four syndromes","volume":"367","author":"van Heyningen V","year":"1994","unstructured":"van Heyningen V. 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Cytogenetic analysis using quantatitive high-sensitivity fluorescence hybridization. anomalies, micrognathia, hypocalcaemia, and depletion of T lymphocytes, which have been Proc Natl Acad Sci USA 1986;83:2934-8."},{"key":"ref_4","first-page":"770","article-title":"In situ hybridization banding of human chromosomes with Alu-PCR products: a simultanreported previously in del(lOp) patients manifesting the DiGeorge phenotype.2324 This evideous karyotype for gene mapping studies","volume":"9","author":"Baldini, A.; Ward, D.C.","year":"1991","unstructured":"Baldini A, Ward DC. In situ hybridization banding of human chromosomes with Alu-PCR products: a simultanreported previously in del(lOp) patients manifesting the DiGeorge phenotype.2324 This evideous karyotype for gene mapping studies. Genomics 1991;9:770-4.","journal-title":"Genomics"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1038\/ng0893-346","article-title":"A gene for Hirschsprung ence supports the hypothesis of another possible locus for DiGeorge syndrome in lOp13.24 disease maps to proximal long arm of chromosome 10","volume":"4","author":"Lyonnet, S.; Bolino, A.; Pelet, A.","year":"1993","unstructured":"Lyonnet S, Bolino A, Pelet A, et al. A gene for Hirschsprung ence supports the hypothesis of another possible locus for DiGeorge syndrome in lOp13.24 disease maps to proximal long arm of chromosome 10. Nature Genet 1993;4:346-50.","journal-title":"Nature Genet"},{"article-title":"A gene for Finally, FISH analysis with a cocktail probe for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. Nature Genet telomeric regions documented the absence of 1993; 4: 351-6. telomeres within the ring. This is usually associated with a severe phenotype","author":"Angrist, M.; Kauffman, E.; Slaugenhaupt, S.A.","key":"ref_6","unstructured":"Angrist M, Kauffman E, Slaugenhaupt SA, et al. A gene for Finally, FISH analysis with a cocktail probe for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. Nature Genet telomeric regions documented the absence of 1993;4:351-6. telomeres within the ring. This is usually associated with a severe phenotype such as that"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1016\/0092-8674(85)90115-1","article-title":"Activation of a novel human transforming gene, ret, by DNA rearrangement","volume":"42","author":"Takahashi, M.; Rita, J.; Cooper, G.M.","year":"1985","unstructured":"Takahashi M, Rita J, Cooper GM. Activation of a novel human transforming gene, ret, by DNA rearrangement. Cell 1985;42:581-8.","journal-title":"Cell"},{"key":"ref_8","first-page":"521","article-title":"The presence of as multiple endocrine neoplasia type 2A (MEN2A)","volume":"4","author":"Park, V.M.; Gustashaw, K.M.; Wathen, T.M.","year":"1989","unstructured":"Park VM, Gustashaw KM, Wathen TM. The presence of as multiple endocrine neoplasia type 2A (MEN2A). Oncogene 1989;4:521-3.","journal-title":"Oncogene"},{"key":"ref_9","first-page":"377","article-title":"Structure and function of telomeres. Annu Rev Genet 1989; 2: 579-4. affecting the tyrosine kinase domain of the RET protooncogene in Hirschsprung's disease","volume":"367","author":"Zakian, V.A.","year":"1994","unstructured":"Zakian VA. Structure and function of telomeres. Annu Rev Genet 1989;2:579-4. affecting the tyrosine kinase domain of the RET protooncogene in Hirschsprung's disease. Nature 1994;367:377-8.","journal-title":"Nature"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1038\/350569a0","article-title":"Structure and function of telomeres","volume":"3","author":"Blackburn, E.H.","year":"1991","unstructured":"Blackburn EH. Structure and function of telomeres. Nature 20 Edery P, Lyonnet S, Mulligan LM, er al. Mutations of the 1991;3:569-73.","journal-title":"Nature; er al"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1007\/BF00293602","article-title":"Malformative syndrome associated with a ring 10 chromosome and translocated 10q\/19 chromosome","volume":"43","author":"Fryns, P.; De Boeck, K.; Jaken, J.; van den Berg, H.","year":"1978","unstructured":"Fryns P, De Boeck K, Jaken J, van den Berg H. Malformative syndrome associated with a ring 10 chromosome and translocated 10q\/19 chromosome. Hum Genet 1978; 43:239-44.","journal-title":"Hum Genet"},{"key":"ref_12","first-page":"375","article-title":"Ring 10 chromosome","volume":"367","author":"Sparkes, R.S.; Ling, S.M.; Muller, H.","year":"1994","unstructured":"Sparkes RS, Ling SM, Muller H. Ring 10 chromosome: 21 Hofstra RMW, Landsvater RM, Ceccherini I, et al. A mutation in the RET proto-oncogene, associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 1994;367:375-6.","journal-title":"Nature; A mutation in the RET proto-oncogene, associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma"},{"issue":"117-21","key":"ref_13","first-page":"101","article-title":"Ring chromosome 10 associated with multiple congenital malformations","volume":"51","author":"Simoni, G.; Rossella, F.; Dalpra, L.; Visconi, G.; Piria-Schwaz, C.","year":"1979","unstructured":"Simoni G, Rossella F, Dalpra L, Visconi G, Piria-Schwaz C. Ring chromosome 10 associated with multiple congenital malformations. Hum Genet 1979;51:117-21. 23 Obregon MG, Mingarelli R, Giannotti A, Di Comite A, Spedicato FS, Dallapiccola B. Partial deletion 10p syndrome. Ann Genet (Paris) 1992;35:101-4.","journal-title":"Hum Genet; Partial deletion 10p syndrome"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1136\/jmg.17.2.148","article-title":"Ring chromosome 10: 46, XX","volume":"17","author":"Tsukino, R.; Tsuda, N.; Dezawa, T.; Ishii, T.; Koike, M.","year":"1980","unstructured":"Tsukino R, Tsuda N, Dezawa T, Ishii T, Koike M. Ring chromosome 10: 46,XX,r(10)(p15-q26). J Med Genet 1980;17: 148-50.","journal-title":"J Med Genet"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1136\/jmg.30.10.803","article-title":"Di George syndrome: an historical review of clinical and cytogenetic features","volume":"30","author":"Greenberg, F.","year":"1993","unstructured":"Greenberg F. 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