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0036808211
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20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: Narrowing of the 9p duplication critical region to 6 Mb
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Chromosome imbalance, normal phenotype, and imprinting
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0023179259
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Proximal 15q variant with normal phenotype in three unrelated individuals
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Duplication of euchromatin without phenotypic effects: A variant of chromosome 16
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0023103270
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A case report of a de novo tandem duplication (5p)(p14-pter)
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7
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Duplication of chromosome region 8p23.1 →p23.3: A benign variant?
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Engelen JJ, Moog U, Evers JL, Dassen H, Albrechts JC, Hamers AJ (2000). Duplication of chromosome region 8p23.1 →p23.3: a benign variant? Am J Med Genet 91:18-21.
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8
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A 4-5/21-22 chromosomal translocation associated with multiple congenital anomalies
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Gustavson KH, Finley SC, Finley WH, Jailing B (1964). A 4-5/21-22 chromosomal translocation associated with multiple congenital anomalies. Acta Paediatr Scand 53:172-181.
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9
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Duplication of 8p23.2: A benign cytogenetic variant?
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Harada N, Takano J, Kondoh T, Ohashi H, Hasegawa T, Sugawara H, et al. (2002). Duplication of 8p23.2: A benign cytogenetic variant?. Am J Med Genet 15:285-288.
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10
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0028111687
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Form of 15q proximal duplication appears to be a normal euchromatic variant
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Jalal SM, Persons DL, Dewald GW, Lindor NM (1994). Form of 15q proximal duplication appears to be a normal euchromatic variant. Am J Med Genet 52:495-497.
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Confirmation of the chromosome 8p23.1 euchromatic duplication as a variant with no clinical manifestations
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O'Malley DP, Storto RD (1999). Confirmation of the chromosome 8p23.1 euchromatic duplication as a variant with no clinical manifestations. Prenat Diagn 19:183-184.
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Ségrégation familiale d'une translocation 5-13 déterminant une monosomie et une trisomie partielles du bras court du chromosome 5: Maladie du cri du chat et sa réciproque
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Lejeune J, Lafourcade J, Berger R, Turpin R (1964). Ségré gation familiale d'une translocation 5-13 déterminant une monosomie et une trisomie partielles du bras court du chromosome 5: Maladie du cri du chat et sa réciproque. CR Acad Sci[III] 258:5767-5770.
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14
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0023802602
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An unusual variant of chromosome 16
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Pinel I, Diaz de Bustamante A, Urioste M Felix V, Ureta A, Martinez-Frias ML (1988). An unusual variant of chromosome 16. Hum Genet 80:194.
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15
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Identification of a dup(5)(p15.3) by multicolor banding
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Riordan D, Vust A, Wickstrom DE, Brown J, Chudley AE, Tomkins D et al. (2002). Identification of a dup(5)(p15.3) by multicolor banding. Clin Genet 61: 277-282.
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16
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0036795904
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8p23 duplication reconsidered: Is it true euchromatic variant with no clinical manifestation?
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Tsai C-H, Graw SL, McGavran L (2002). 8p23 duplication reconsidered: is it true euchromatic variant with no clinical manifestation? J Med Genet 39: 769-774.
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Tsai, C.-H.1
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A new variant of chromosome 16
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Thompson PW, Roberts SH (1987). A new variant of chromosome 16. Hum Genet 76:100-101.
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Two further cases of variation in band 8p23.1. Not always a benign variant?
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Williams L, Larkins S, Roberts E, Davison EV. (1996). Two further cases of variation in band 8p23.1. Not always a benign variant? J Med Genet 33(A3):020.
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19
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Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype
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Partial trisomy for short and long arm of chromosome no 5. Two cases of two possible syndromes
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21
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Inverted duplication of chromosome 5p14p-p15.3 confirmed with in situ hybridization
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Zenger-Hain JL, Vandyke DL, Wiktor A, Walker H, Feldman GL (1993). Inverted duplication of chromosome 5p14p-p15.3 confirmed with in situ hybridization. Am J Med Genet 47:1198-1201.
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