{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:55Z","timestamp":1761718075017,"version":"build-2065373602"},"reference-count":37,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1980,10]]},"abstract":"<jats:p>A de novo tandem duplication 1q32--q42 was observed in a 7-month-old mentally retarded and malformed male infant. Karyotype-phenotype correlation in other similar unbalanced trisomies has shown psychomotor retardation, micro- or retrognathia or both, and low set or malpositioned ears to be the most common features associated with this newly recognised syndrome. However, after reviewing patients with duplication of regions 1q2, 3, and 4 and 1q2 and 3, it was concluded that similar non-specific clinical features are also present in these 1q imbalances. On the whole, a rather wide range in phenotypical expression has been observed in different cases. Thus it is concluded that, at present, it is impossible to delineate the profile of the syndromes resulting from partial 1q trisomies.<\/jats:p>","DOI":"10.1136\/jmg.17.5.398","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"398-402","source":"Crossref","is-referenced-by-count":21,"title":["De novo duplication 1q32-q42: variability of phenotypic features in partial lq trisomics."],"prefix":"10.1136","volume":"17","author":[{"given":"M S","family":"Lungarotti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Falorni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Calabro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Passalacqua","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1980,10,1]]},"reference":[{"key":"ref_1","first-page":"159","article-title":"somique: Ins(7; 3) (q31; p21p26)","volume":"15","year":"1972","unstructured":"somique: Ins(7;3) (q31;p21p26). Ann Genet (Paris) 1972; 15:159-65."},{"key":"ref_2","first-page":"191","article-title":"Clinical syndromes associated with partial duplications of chromosomes 2 and 3; dup(2p)","volume":"14","author":"Francke, U.","year":"1978","unstructured":"Francke U. Clinical syndromes associated with partial duplications of chromosomes 2 and 3; dup(2p), dup(2q), dup(3p), dup(3q). Birth Defects 1978;14:191-227."},{"key":"ref_3","article-title":"Trisomy for the distal end of the short arm of chromosome 3. A syndrome","author":"Yunis, J.J.","year":"1978","unstructured":"Yunis JJ. Trisomy for the distal end of the short arm of chromosome 3. A syndrome. Am J Dis Child 1978;132: A number of structural variations and anomalies of chromosome 1 have been reported.' Among duplications of the long arm (lq +), the I qh variant is the most common.2 3The enlargement of chromosome 1 is in these instances the result of an elongation of the 30-3.","journal-title":"Am J Dis Child; 132: A number of structural variations and anomalies of chromosome 1 have been reported.' Among duplications of the long arm (lq +), the I qh variant is the most common.2 3The enlargement of chromosome 1 is in these instances the result of an elongation of the 30-3"},{"issue":"58","key":"ref_4","first-page":"397","article-title":"A familial 3\/18 reciprocal translocation resulting in chromosome duplication-deficiency (3 ? + 18q-)","volume":"1969","author":"Aarskog, D.","unstructured":"Aarskog D. A familial 3\/18 reciprocal translocation resulting in chromosome duplication-deficiency (3 ? + 18q-). Acta Paediatr Scand 1969;58:397-406.","journal-title":"Acta Paediatr Scand"},{"key":"ref_5","first-page":"613","article-title":"Among congenital anomalies of the long arm of cytes cultures from human peripheral blood","volume":"20","year":"1960","unstructured":"Among congenital anomalies of the long arm of cytes cultures from human peripheral blood. Exp Cell Res 1960;20:613-6.","journal-title":"Exp Cell Res"},{"key":"ref_6","first-page":"201","article-title":"XY, t (3; 22) (p2; ql3) resulting in partial trisomy for the short arm of chromosome 3","volume":"11","year":"1976","unstructured":"Surana RB, Braudo ME, Conen PE, Slade RH. 46,XY,t (3;22) (p2;ql3) resulting in partial trisomy for the short arm of chromosome 3. Clin Genet 1976;11:201-6.","journal-title":"Clin Genet"},{"key":"ref_7","first-page":"287","article-title":"Trisomie partielle pour la partie distale du bras court du chromosome 3. 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Ann Genet (Paris) 1977;20: 159-65."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1111\/j.1399-0004.1976.tb00005.x","article-title":"Partial trisomy 15 in a young girl","volume":"10","author":"Mankinen, C.B.; Holt, J.G.; Sears, J.W.","year":"1976","unstructured":"Mankinen CB, Holt JG, Sears JW. Partial trisomy 15 in a young girl. Clin Genet 1976;10:27-32.","journal-title":"Clin Genet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1136\/jmg.11.3.287","article-title":"Inherited partial duplication of chromosome No 15","volume":"11","author":"Wilson, M.G.","year":"1974","unstructured":"Wilson MG. Inherited partial duplication of chromosome No 15. J Med Genet 1974;11:287-91.","journal-title":"J Med Genet"},{"article-title":"The proband was the product of the second pregnancy of a 20-year-old mother and a 25-year-old father. The parents were healthy and unrelated. A Received for publication 10","year":"1979","key":"ref_11","unstructured":"The proband was the product of the second pregnancy of a 20-year-old mother and a 25-year-old father. The parents were healthy and unrelated. A Received for publication 10 December 1979"},{"key":"ref_12","article-title":"Chromosomal variation in nman: a catalog of chromosomal variants and anomalies","author":"Borgaonkar, D.S.","year":"1977","unstructured":"Borgaonkar DS. Chromosomal variation in nman: a catalog of chromosomal variants and anomalies. 2nd ed. New York: Alan R Liss, 1977.","edition":"2nd ed"},{"key":"ref_13","first-page":"776","article-title":"Chromosome studies in a neonatal population","volume":"106","author":"Hamerton, J.L.; Ray, M.; Abbott, J.; Williamson, C.; Ducasse, G.C.","year":"1972","unstructured":"Hamerton JL, Ray M, Abbott J, Williamson C, Ducasse GC. Chromosome studies in a neonatal population. 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Partial trisomy of the long arm of chromosome 1 due to a familial translocation t(1;10) (q32;q26). Hum Genet 1978;43:339-43.","journal-title":"Hum Genet"},{"key":"ref_18","article-title":"Trisomy 1q32-1 qter by maternal translocation t(1; 6) (q32; q26). Atti del IV Convegno Nazionale di Citogenetica Medica","author":"F, Dagna Bricarelli; A, Rasore Quartino; L, Doria Lamba; R, Chisci; G, Caffarena","year":"1978","unstructured":"Dagna Bricarelli F, Rasore Quartino A, Doria Lamba L, Chisci R, Caffarena G. Trisomy 1q32-1 qter by maternal translocation t(1;6) (q32;q26). Atti del IV Convegno Nazionale di Citogenetica Medica, Palermo, 28-31 April 1978."},{"issue":"35","key":"ref_19","first-page":"9","article-title":"Partial trisomy lq","volume":"27","author":"Finley, W.H.; Garrett, J.H.; Finley, S.C.","year":"1975","unstructured":"Finley WH, Garrett JH, Finley SC. Partial trisomy lq. Am JHutm Genet 1975;27:35A. 9 Garrett JH, Finley WH. Fetal loss and familial chromosome 1 translocations. Clin Genet 1975;8:341-8.","journal-title":"Am JHutm Genet; Fetal loss and familial chromosome 1 translocations"},{"key":"ref_20","first-page":"319","article-title":"Partial monosomy or trisomy resulting from crossing over within a rearranged chromosome 1","volume-title":"Clin Genet","volume":"10","author":"Garver, K.L.; Ciocco, A.M.; Turack, N.A.","year":"1976","unstructured":"Garver KL, Ciocco AM, Turack NA. Partial monosomy or trisomy resulting from crossing over within a rearranged chromosome 1. Clin Genet 1976;10:319-24."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1111\/j.1399-0004.1973.tb01935.x","article-title":"A partial trisomy of chromosome Iq in a family with a t(lq-; 4q+) translocation","volume":"4","author":"Neu, R.L.; Gardner, L.I.","year":"1973","unstructured":"Neu RL, Gardner LI. A partial trisomy of chromosome Iq in a family with a t(lq-;4q+) translocation. 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