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Volumn 25, Issue 12, 2005, Pages 1084-1087

Prenatal detection of deletion 6q13q15 in a complex karyotype

Author keywords

6q13q15 deletion; Chromosome deletion; Complex chromosomal rearrangement; Inherited robertsonian translocation

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 13Q; CHROMOSOME 15; CHROMOSOME 6Q; CLEFT PALATE; CYTOGENETICS; FEMALE; GENE DELETION; GENE TRANSLOCATION; GENETIC IDENTIFICATION; HUMAN; HYPERTELORISM; IN SITU HYBRIDIZATION; KARYOTYPE; KARYOTYPE 45,X; MATERNAL SERUM; MICROGNATHIA; MICROTIA; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; ROBERTSONIAN CHROMOSOME TRANSLOCATION; TERATOLOGY;

EID: 29544445906     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.1265     Document Type: Article
Times cited : (6)

References (10)
  • 2
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    • (2000) Eur J Paediatric Neurol , vol.4 , Issue.1 , pp. 39-43
    • Gilhuis, H.J.1    Van Ravenswaaij, C.M.A.2    Hamel, B.J.C.3    Gabrels, F.J.M.4
  • 3
    • 0030906366 scopus 로고    scopus 로고
    • New insights into the phenotypes of 6q deletion
    • Hopkin RJ, Schorry E, Bofinger M, et al. 1997. New insights into the phenotypes of 6q deletion. Am J Med Genet 70: 377-386.
    • (1997) Am J Med Genet , vol.70 , pp. 377-386
    • Hopkin, R.J.1    Schorry, E.2    Bofinger, M.3
  • 4
    • 0030747987 scopus 로고    scopus 로고
    • Proximal interstitial 6q deletion. A recognizable syndrome
    • Kumar R, Riordan D, Dawson AJ, Chudley AE. 1997. Proximal interstitial 6q deletion. A recognizable syndrome. Am J Med Genet 71: 353-356.
    • (1997) Am J Med Genet , vol.71 , pp. 353-356
    • Kumar, R.1    Riordan, D.2    Dawson, A.J.3    Chudley, A.E.4
  • 5
    • 0017756843 scopus 로고
    • Congenital anomalies including the VATER association in a patient with a del(6)q deletion
    • McNeal RM, Skoglund RR, Franke U. 1977. Congenital anomalies including the VATER association in a patient with a del(6)q deletion. J Pediatr 91: 957-960.
    • (1977) J Pediatr , vol.91 , pp. 957-960
    • McNeal, R.M.1    Skoglund, R.R.2    Franke, U.3
  • 6
    • 0034487876 scopus 로고    scopus 로고
    • A distinctive phenotype associated with an interstitial deletion 6q14 contained within a de novo pericentric inversion 6(p11.2q15)
    • Passarge E. 2000. A distinctive phenotype associated with an interstitial deletion 6q14 contained within a de novo pericentric inversion 6(p11.2q15). Cytogenet Cell Genet 91: 192-198.
    • (2000) Cytogenet Cell Genet , vol.91 , pp. 192-198
    • Passarge, E.1
  • 8
    • 0026509505 scopus 로고
    • Ocular albinism in a male with del(6)(q13-q15): Candidate region for autosomal recessive ocular albinism?
    • Rose NC, Menacker SJ, Schnur RE, et al. 1992. Ocular albinism in a male with del(6)(q13-q15): candidate region for autosomal recessive ocular albinism? Am J Med Genet 42: 700-705.
    • (1992) Am J Med Genet , vol.42 , pp. 700-705
    • Rose, N.C.1    Menacker, S.J.2    Schnur, R.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.