메뉴 건너뛰기




Volumn 155, Issue 3, 2011, Pages 656-659

A family with partial duplication/deletion 4p due to a balanced t (4; 15) (p16.2; p11.2) translocation

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 15P; CHROMOSOME 4P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 4; CHROMOSOME DELETION 4P; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION 15; CHROMOSOME TRANSLOCATION 4; COPY NUMBER VARIATION; CYTOGENETICS; FACE MALFORMATION; FAMILIAL DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE; HETEROZYGOSITY; HUMAN; HYPERTELORISM; INFANT; KARYOTYPE; LANGUAGE DISABILITY; MALE; MENTAL DEFICIENCY; MICROPENIS; MUSCLE HYPOTONIA; PARTIAL TRISOMY 4; PHILTRUM; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; TOOTH MALFORMATION; WOLF HIRSCHHORN SYNDROME;

EID: 79951966256     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33867     Document Type: Article
Times cited : (4)

References (14)
  • 1
    • 0017138184 scopus 로고
    • Two cases of trisomy 4p with translocation t(4p-,7q+) in several members of one family
    • Andrle M, Erlach A, Killian W, Rett A. 1976. Two cases of trisomy 4p with translocation t(4p-, 7q+) in several members of one family. Hum Genet 33: 155-160.
    • (1976) Hum Genet , vol.33 , pp. 155-160
    • Andrle, M.1    Erlach, A.2    Killian, W.3    Rett, A.4
  • 2
    • 0018570584 scopus 로고
    • 4p trisomy syndrome: Report of 4 additional cases and segregation analysis of 21 families with different translocations
    • Crane J, Sujansky E, Smith A. 1979. 4p trisomy syndrome: Report of 4 additional cases and segregation analysis of 21 families with different translocations. Am J Med Genet 4: 219-229.
    • (1979) Am J Med Genet , vol.4 , pp. 219-229
    • Crane, J.1    Sujansky, E.2    Smith, A.3
  • 4
    • 0017799698 scopus 로고
    • Trisomy 4p and deletion 4p- in a family having translocation, t(4p-; 12p+)
    • Mortimer JG, Chewings W, Miethke P, Smith GF. 1978. Trisomy 4p and deletion 4p- in a family having translocation, t(4p-; 12p+). Hum Hered 28: 132-140.
    • (1978) Hum Hered , vol.28 , pp. 132-140
    • Mortimer, J.G.1    Chewings, W.2    Miethke, P.3    Smith, G.F.4
  • 6
    • 0029792298 scopus 로고    scopus 로고
    • Characterization of a derivative chromosome 17 by fish-technique
    • Ramesh KH, Shah HO, Sherman J, Lin JH, Verma RS. 1996. Characterization of a derivative chromosome 17 by fish-technique. Ann Genet 39: 177-180.
    • (1996) Ann Genet , vol.39 , pp. 177-180
    • Ramesh, K.H.1    Shah, H.O.2    Sherman, J.3    Lin, J.H.4    Verma, R.S.5
  • 7
    • 0021067180 scopus 로고
    • Trisomy 4p in four relatives: Variability and lack of distinctive features in phenotypic expression
    • Reynolds JF, Shires MA, Wyandt HE, Kelly TE. 1983. Trisomy 4p in four relatives: Variability and lack of distinctive features in phenotypic expression. Clin Genet 24: 365-374.
    • (1983) Clin Genet , vol.24 , pp. 365-374
    • Reynolds, J.F.1    Shires, M.A.2    Wyandt, H.E.3    Kelly, T.E.4
  • 8
    • 0015709793 scopus 로고
    • Partial trisomy 4p with translocation 4p-, 22p+ in the father
    • Schwanitz G, Grosse KP. 1973. Partial trisomy 4p with translocation 4p-, 22p+ in the father. Ann Genet 16: 263-266.
    • (1973) Ann Genet , vol.16 , pp. 263-266
    • Schwanitz, G.1    Grosse, K.P.2
  • 9
    • 37249004207 scopus 로고    scopus 로고
    • Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations
    • South ST, Whitby H, Battaglia A, Carey JC, Brothman AR. 2008. Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations. Eur J Hum Genet 16: 45-52.
    • (2008) Eur J Hum Genet , vol.16 , pp. 45-52
    • South, S.T.1    Whitby, H.2    Battaglia, A.3    Carey, J.C.4    Brothman, A.R.5
  • 10
    • 4344623939 scopus 로고    scopus 로고
    • Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation
    • Takeno SS, Corbani M, Andrade JA, Smith MA, Brunoni D, Melaragno MI. 2004. Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation. Am J Med Genet Part A 129A: 180-183.
    • (2004) Am J Med Genet Part A , vol.129 , pp. 180-183
    • Takeno, S.S.1    Corbani, M.2    Andrade, J.A.3    Smith, M.A.4    Brunoni, D.5    Melaragno, M.I.6
  • 14
    • 55949114508 scopus 로고    scopus 로고
    • On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: Genotype-phenotype correlation analysis of 80 patients and literature review
    • Zollino M, Murdolo M, Marangi G, Pecile V, Galasso C, Mazzanti L, Neri G. 2008. On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: Genotype-phenotype correlation analysis of 80 patients and literature review. Am J Med Genet Part C Semin Med Genet 148C: 257-269.
    • (2008) Am J Med Genet Part C Semin Med Genet , vol.148 , pp. 257-269
    • Zollino, M.1    Murdolo, M.2    Marangi, G.3    Pecile, V.4    Galasso, C.5    Mazzanti, L.6    Neri, G.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.