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Familial tandem duplication of band q31.1 to q32.3 on chromosome 4 with mild phenotypic effect
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De novo interstitial tandem duplication of chromosome 4(q21-q28)
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Cytogenetic and molecular identification of a de novo direct duplication of the long arm of chromosome 4(q21.3 → q31.3)
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Jeziorowska A, Ciesla W, Houck GE, Yao XL, Harris MS, Truszczak B, Skorski M, Jakubowski L, Jenkins EC, Kaluzewski B. 1993. Cytogenetic and molecular identification of a de novo direct duplication of the long arm of chromosome 4(q21.3 → q31.3). Am J Med Genet 46:83-87.
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Partial trisomy 4 resulting from a 4/18 reciprocal translocation
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Vogel W, Siebers JW, Gunkel J. 1975. Uneinheitlicher Phanotipbei partialtrisomie 4q. Humangenetik 28:103-112.
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Partial trisomy 4q
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Yunis E, Iraldo A, Zuniga R, Egel H, Ramirez E. 1977. Partial trisomy 4q. Ann Génét 20:243-248.
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Further contribution to the description of phenotypes associated with partial 4q duplication
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Zollino M, Zampino G, Torrioli G, Pomponi MG, Neri G. 1995. Further contribution to the description of phenotypes associated with partial 4q duplication. Am J Med Genet 57:69-73.
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