{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T21:14:34Z","timestamp":1760908474783,"version":"build-2065373602"},"reference-count":9,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,12]]},"abstract":"<jats:p>We present the perinatal findings of a fetus with a de novo unbalanced chromosome translocation that resulted in monosomy for proximal 14q and monosomy for distal 4p. Prenatal sonographic examination at 27 weeks of gestation showed intrauterine growth retardation, microcephaly, cardiomegaly with arrhythmia, and asymmetry of the upper limbs. Genetic amniocentesis showed an abnormal karyotype of 45,XX,der(4)t(4;14)(p16.3;q12),-14. Linkage analysis of the family confirmed the maternal origin of the deletions. Molecular refinement of the deletion breakpoints indicated that the breakpoints at 4p16.3 and 14q12 were located between loci D4S403 (present) and D4S394 (absent), and between loci D14S252 (present) and D14S64 (absent), respectively. Necropsy showed dysmorphic features compatible with Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, partial hemihypoplasia, and a normal brain without evidence of holoprosencephaly. Our case adds to the list of clinical phenotypes associated with the proximal regions of 14q.<\/jats:p>","DOI":"10.1136\/jmg.35.12.1050","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"1050-1053","source":"Crossref","is-referenced-by-count":16,"title":["De novo unbalanced translocation resulting in monosomy for proximal 14q and distal 4p in a fetus with intrauterine growth retardation, Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, and partial hemihypoplasia."],"prefix":"10.1136","volume":"35","author":[{"given":"C P","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S R","family":"Chern","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C C","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W L","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M H","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K M","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1998,12,1]]},"reference":[{"article-title":"The Cooperative Human Linkage Center","year":"1997","key":"ref_1","unstructured":"The Cooperative Human Linkage Center. 1997. http:\/\/www.chlc.org."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/(SICI)1096-8628(19970711)71:1<47::AID-AJMG9>3.0.CO;2-N","article-title":"Delimiting the Wolf-Hirschhorn syndrome critical region to 750 kilobase pairs","volume":"71","author":"Altherr, M.R.; Wright, T.J.; Denison, K.; Perez-Castro, A.V.; Johnson, V.P.","year":"1997","unstructured":"Altherr MR, Wright TJ, Denison K, Perez-Castro AV, Johnson VP. Delimiting the Wolf-Hirschhorn syndrome critical region to 750 kilobase pairs. AmJ Med Genet 1997;71:47-","journal-title":"AmJ Med Genet"},{"issue":"46","key":"ref_3","first-page":"61","article-title":"Two siblings with interstitial deletion of chromosome","volume-title":"No to Hattatsu (Brain Dev","volume":"14","author":"Kodoma, M.; Kai, Y.; Sugino, S.; Inokuchi, N.; Miike, T.","year":"1990","unstructured":"Kodoma M, Kai Y, Sugino S, Inokuchi N, Miike T. Two siblings with interstitial deletion of chromosome 14 [46,XY,del(14)(q12q13.3)]. No to Hattatsu (Brain Dev) 1990;22:61-5."},{"key":"ref_4","first-page":"843","article-title":"Cardiomyopathies","volume-title":"Rimoin's principles and practice of medical genetics","author":"Vosberg, H.P.; Mckenna, W.J.","year":"1997","unstructured":"Vosberg HP, Mckenna WJ. Cardiomyopathies. In: Rimoin DL, Connor JM, Pyeritz RE, eds. Emery and Rimoin's principles and practice of medical genetics. 3rd ed. New York: Churchill Livingstone, 1997:843-77.","edition":"3rd ed"},{"key":"ref_5","first-page":"913","article-title":"Inherited cardiomyopathies","volume":"330","author":"Kelly, D.P.; Strauss, A.W.","year":"1994","unstructured":"Kelly DP, Strauss AW. Inherited cardiomyopathies. NEnglJ7 Med 1994;330:913-19."},{"key":"ref_6","first-page":"137","article-title":"Morbid anatomy of the human genome","volume-title":"and practice of medical genetics; Rimoin 's principles","author":"McKusick, V.A.; Amberger, J.S.","year":"1997","unstructured":"McKusick VA, Amberger JS. Morbid anatomy of the human genome. In: Rimoin DL, Connor JM, Pyeritz RE, eds. Emery and Rimoin 's principles and practice of medical genetics. 3rd ed. New York: Churchill Livingstone, 1997:137-234.","edition":"3rd ed"},{"key":"ref_7","first-page":"269","article-title":"Holoprosencephaly associated with 46, XX, del(14)(qll.1q13). Am J'","volume":"49","author":"Levin, S.W.; Surana, R.B.","year":"1991","unstructured":"Levin SW, Surana RB. Holoprosencephaly associated with 46,XX,del(14)(qll.1q13). Am J' Hum Genet Suppl 1991; 49:269.","journal-title":"Hum Genet Suppl"},{"key":"ref_8","first-page":"1145","article-title":"limb and partial hemihypoplasia with proximal deletion of chromosome 14q. Howe' ver, short Thomas G, Talbot CC Jr. Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13; 14) trisomy 14","volume":"52","author":"Antonarakis, S.E.; Blouin, J.L.; Maher, J.; Avramopoulos, D.","year":"1993","unstructured":"Antonarakis SE, Blouin JL, Maher J, Avramopoulos D, limb and partial hemihypoplasia with proximal deletion of chromosome 14q. Howe' ver, short Thomas G, Talbot CC Jr. Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14. Am J Hum limbs and asymmetry have not been idescribed in the seven previous case reports of proximal 14q deletion.4 5 10 1119 The cause of assymmetry Genet 1993;52:1145-52.","journal-title":"Am; Hum limbs and asymmetry have not been idescribed in the seven previous case reports of proximal 14q deletion.4 5 10 1119 The cause of assymmetry Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1002\/ajmg.1320510213","article-title":"Distinct phenotype in maternal uniparental disomy of chromosome 14","volume":"51","author":"Healey, S.; Powell, F.; Battersby, M.; Chenevix-Trench, G.; McGill, J.","year":"1994","unstructured":"Healey S, Powell F, Battersby M, Chenevix-Trench G, McGill J. Distinct phenotype in maternal uniparental disomy of chromosome 14. 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