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Volumn 46, Issue 1, 2003, Pages 29-35

Severe psychomotor retardation in a boy with a supernumerary derivative chromosome resulting in partial trisomy 21 and partial trisomy 7p

Author keywords

Mental retardation; Partial trisomy 21; Partial trisomy 7p

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOMAL LOCALIZATION; CHROMOSOME 21Q; CHROMOSOME ANALYSIS; CHROMOSOME BAND; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; DISEASE SEVERITY; DOWN SYNDROME; GENE LOCUS; HUMAN; MALE; MARKER GENE; PARTIAL TRISOMY; PARTIAL TRISOMY 21; PARTIAL TRISOMY 7P; PHENOTYPE; PSYCHOMOTOR DISORDER; SUPERNUMERARY CHROMOSOME; TELOMERE;

EID: 0038003011     PISSN: 00033995     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0003-3995(03)00002-9     Document Type: Article
Times cited : (4)

References (32)
  • 2
    • 0031044799 scopus 로고    scopus 로고
    • De novo duplication of 7pter→p21.2 and deletion of 9pter→p23.5: Clinical and cytogenetic diagnosis
    • E. Back, C. Jung, S. Zeitler, W. Schempp, De novo duplication of 7pter→p21.2 and deletion of 9pter→p23.5: clinical and cytogenetic diagnosis, Clin Genet 51 (1997) 56-60.
    • (1997) Clin Genet , vol.51 , pp. 56-60
    • Back, E.1    Jung, C.2    Zeitler, S.3    Schempp, W.4
  • 3
    • 0030331236 scopus 로고    scopus 로고
    • The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart
    • P. Bourgeois, C. Stoetzel, A.L. Bolcato-Bellemin, M.G. Mattei, F. Perrin-Schmitt, The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart, Mamm Genome 7 (1996) 915-917.
    • (1996) Mamm Genome , vol.7 , pp. 915-917
    • Bourgeois, P.1    Stoetzel, C.2    Bolcato-Bellemin, A.L.3    Mattei, M.G.4    Perrin-Schmitt, F.5
  • 4
    • 0038131463 scopus 로고
    • Different recombination chromosomes in two brothers with Vater syndrome traced to a pericentric inversion of chromosome 7 inherited from the maternal grandfather
    • J.P. Burns, D. Starkman, P, Jackson, L. Piotrowski, C. Walsh, Different recombination chromosomes in two brothers with Vater syndrome traced to a pericentric inversion of chromosome 7 inherited from the maternal grandfather, Am J Hum Genet 45 (1989) A72.
    • (1989) Am J Hum Genet , vol.45
    • Burns, J.P.1    Starkman, D.2    Jackson, P.3    Piotrowski, L.4    Walsh, C.5
  • 5
    • 0032872667 scopus 로고    scopus 로고
    • Duplication of 7p21.2→pter due to maternal 7p; 21q translocation: Implications for critical segment assignment in the 7p duplication syndrome
    • T. Cai, P. Yu, D.A. Tagle, J. Xia, Duplication of 7p21.2→pter due to maternal 7p; 21q translocation: implications for critical segment assignment in the 7p duplication syndrome, Am J Med Genet 86 (1999) 305-311.
    • (1999) Am J Med Genet , vol.86 , pp. 305-311
    • Cai, T.1    Yu, P.2    Tagle, D.A.3    Xia, J.4
  • 8
  • 10
    • 0030459913 scopus 로고    scopus 로고
    • De novo direct tandem duplication of a small segment of the short arm of chromosome 7 (p21.22→22.1)
    • H.B.G. Franz, M. Schliephacke, G. Niemann, G. Mielke, C. Backsch, De novo direct tandem duplication of a small segment of the short arm of chromosome 7 (p21.22→22.1), Clin Genet 50 (1996) 426-429.
    • (1996) Clin Genet , vol.50 , pp. 426-429
    • Franz, H.B.G.1    Schliephacke, M.2    Niemann, G.3    Mielke, G.4    Backsch, C.5
  • 11
    • 0023836484 scopus 로고
    • Chromosomal imbalance in the offspring of translocation carriers involving 7p, further contributing with three cases to the partial trisomy 7p phenotype
    • J. Gabarrón, C. Glover, A. Jiménez, P. Salas, J. Pérez-Bryan, M.J. Parra, Chromosomal imbalance in the offspring of translocation carriers involving 7p, further contributing with three cases to the partial trisomy 7p phenotype, Clin Genet 33 (1988) 211-219.
    • (1988) Clin Genet , vol.33 , pp. 211-219
    • Gabarrón, J.1    Glover, C.2    Jiménez, A.3    Salas, P.4    Pérez-Bryan, J.5    Parra, M.J.6
  • 14
    • 0028072102 scopus 로고
    • Borderline intelligence and discrete craniofacial dysmorphism in an adolescent female with partial trisomy 7p due to a de novo tandem duplication 7 (p15.1-p21.3)
    • A. Kleczkowska, P. Decock, H. Van den Berghe, J.P. Fryns, Borderline intelligence and discrete craniofacial dysmorphism in an adolescent female with partial trisomy 7p due to a de novo tandem duplication 7 (p15.1-p21.3), Genet Couns 5 (1994) 393-397.
    • (1994) Genet Couns , vol.5 , pp. 393-397
    • Kleczkowska, A.1    Decock, P.2    Van den Berghe, H.3    Fryns, J.P.4
  • 15
    • 0026583894 scopus 로고
    • Down syndrome: Molecular mapping of the congenital heart disease and duodenal stenosis
    • J.R. Korenberg, C. Bradley, C.M. Disteche, Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis, Am J Hum Genet 50 (1992) 294-302.
    • (1992) Am J Hum Genet , vol.50 , pp. 294-302
    • Korenberg, J.R.1    Bradley, C.2    Disteche, C.M.3
  • 17
    • 0034709210 scopus 로고    scopus 로고
    • Trisomy 7p resulting from 7p 15; 9p24 translocation: Report of a new case and review of associated medical complications
    • C. Kozma, B.R. Haddad, J.M. Meck, Trisomy 7p resulting from 7p 15; 9p24 translocation: report of a new case and review of associated medical complications, Am J Med Genet 91 (2000) 286-290.
    • (2000) Am J Med Genet , vol.91 , pp. 286-290
    • Kozma, C.1    Haddad, B.R.2    Meck, J.M.3
  • 18
    • 0017741645 scopus 로고
    • Partial trisomy 7p associated with familial 7p; 22q translocation
    • L.M. Larson, W.A. Wasdahl, S.A. Jalal, Partial trisomy 7p associated with familial 7p; 22q translocation, J Med Genet 14 (1977) 258-261.
    • (1977) J Med Genet , vol.14 , pp. 258-261
    • Larson, L.M.1    Wasdahl, W.A.2    Jalal, S.A.3
  • 19
    • 0016667249 scopus 로고
    • Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring
    • R.H. Lindenbaum, M. Bobrow, Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring, J Med Genet 12 (1975) 29-43.
    • (1975) J Med Genet , vol.12 , pp. 29-43
    • Lindenbaum, R.H.1    Bobrow, M.2
  • 20
    • 0028899546 scopus 로고
    • Trisomy 7p resulting from isochromosome formation and whole-arm translocation
    • L.W. Lurie, M.F. Schwartz, S. Schwartz, M.M. Cohen, Trisomy 7p resulting from isochromosome formation and whole-arm translocation, Am J Med Genet 55 (1995) 62-66.
    • (1995) Am J Med Genet , vol.55 , pp. 62-66
    • Lurie, L.W.1    Schwartz, M.F.2    Schwartz, S.3    Cohen, M.M.4
  • 23
    • 0024418101 scopus 로고
    • Emerging phenotype of duplication 7p: A report of three cases and review of the literature
    • J.M. Milunsky, H.E. Wyandt, A. Milunsky, Emerging phenotype of duplication 7p: a report of three cases and review of the literature, Am J Med Genet 33 (1989) 364-368.
    • (1989) Am J Med Genet , vol.33 , pp. 364-368
    • Milunsky, J.M.1    Wyandt, H.E.2    Milunsky, A.3
  • 24
    • 0037793753 scopus 로고
    • Facial phenotype of 7p trisomy: A new delineated chromosomal syndrome?
    • K. Ohba, T. Sonoda, M. Ohdo, M. Hamada, R. Shiba, Facial phenotype of 7p trisomy: a new delineated chromosomal syndrome? Teratology 48 (1993) 502.
    • (1993) Teratology , vol.48 , pp. 502
    • Ohba, K.1    Sonoda, T.2    Ohdo, M.3    Hamada, M.4    Shiba, R.5
  • 25
  • 27
    • 0030044465 scopus 로고    scopus 로고
    • Duplication of 7p: Further delineation of the phenotype and restriction of the critical region to the distal part of the short arm
    • O. Reish, S.A. Berry, G. Dewald, R.A. King, Duplication of 7p: further delineation of the phenotype and restriction of the critical region to the distal part of the short arm, Am J Med Genet 61 (1996) 21-25.
    • (1996) Am J Med Genet , vol.61 , pp. 21-25
    • Reish, O.1    Berry, S.A.2    Dewald, G.3    King, R.A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.