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Volumn 16, Issue 1, 2007, Pages 63-64

Maternal complex chromosome rearrangements involving five chromosomes 1, 4, 10, 12 and 20 ascertained through a del(4)(p14p15) detected in a mother's first affected daughter

Author keywords

Complex chromosomal rearrangement; Congenital defect; Del(4)(p14p15)

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 4P; CHROMOSOME 4Q; CHROMOSOME DELETION 4; CHROMOSOME REARRANGEMENT; CHROMOSOME REARRANGEMENT 1; CHROMOSOME REARRANGEMENT 10; CHROMOSOME REARRANGEMENT 12; CHROMOSOME REARRANGEMENT 20; CHROMOSOME REARRANGEMENT 4; CHROMOSOME TRANSLOCATION 10; CLINICAL FEATURE; DYSTONIA; FACE DYSMORPHIA; FEMALE; HUMAN; MACROGLOSSIA; MACROSTOMIA; MENTAL DEFICIENCY; PALPEBRAL FISSURE ANOMALY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SYMPTOM;

EID: 33845658085     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mcd.0000220615.55402.d8     Document Type: Article
Times cited : (3)

References (5)
  • 1
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    • (1994) Am J Med Genet , vol.53 , pp. 255-263
    • Batista, D.A.1    Pai, G.S.2    Stetten, G.3
  • 2
    • 0023853716 scopus 로고
    • Reproductive risks for carriers of complex chromosome rearrangements: Analysis of 25 families
    • Gorski JL, Kistenmacher ML, Punnett HH, Zackai EH, Emanuel BS (1988). Reproductive risks for carriers of complex chromosome rearrangements: analysis of 25 families. Am J Med Genet 29:247-261.
    • (1988) Am J Med Genet , vol.29 , pp. 247-261
    • Gorski, J.L.1    Kistenmacher, M.L.2    Punnett, H.H.3    Zackai, E.H.4    Emanuel, B.S.5
  • 4
    • 0030906960 scopus 로고    scopus 로고
    • Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations
    • Madan K, Nieuwint AW, van Bever Y (1997). Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations. Hum Genet 99:806-815.
    • (1997) Hum Genet , vol.99 , pp. 806-815
    • Madan, K.1    Nieuwint, A.W.2    Van Bever, Y.3
  • 5
    • 0342545888 scopus 로고    scopus 로고
    • Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes
    • Röthlisberger B, Kotzot D, Brecevic L, Koehler M, Balmer D, Binkert F, et al. (1999). Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes. Eur J Hum Genet 7:873-883.
    • (1999) Eur J Hum Genet , vol.7 , pp. 873-883
    • Röthlisberger, B.1    Kotzot, D.2    Brecevic, L.3    Koehler, M.4    Balmer, D.5    Binkert, F.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.