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Volumn 19, Issue 5, 2011, Pages 555-560

Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18

Author keywords

Chromosome 18; Inversion chromosome 18; Segmental uniparental disomy

Indexed keywords

ANEUPLOIDY; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 18; CHROMOSOME INVERSION; CYTOGENETICS; FEMALE; GROWTH RETARDATION; HUMAN; MALE; MENTAL DEFICIENCY; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY;

EID: 79955752392     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.252     Document Type: Article
Times cited : (8)

References (29)
  • 1
    • 0029162269 scopus 로고
    • Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis
    • Ledbetter DH, Engel E: Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 1995; 4: 1757-1764.
    • (1995) Hum Mol Genet , vol.4 , pp. 1757-1764
    • Ledbetter, D.H.1    Engel, E.2
  • 2
    • 0032511751 scopus 로고    scopus 로고
    • Systematic search for uniparental disomy in early fetal losses: The results and a review of the literature
    • DOI 10.1002/(SICI)1096-8628(19981012)79:5<366::AID-AJMG7>3.0.CO;2-H
    • Shaffer LG, McCaskill C, Adkins K, Hassold TJ: Systematic search for uniparental disomy in early fetal losses: The results and a review of the literature. Am J Med Genet 1998; 79: 366-372. (Pubitemid 28445447)
    • (1998) American Journal of Medical Genetics , vol.79 , Issue.5 , pp. 366-372
    • Shaffer, L.G.1    McCaskill, C.2    Adkins, K.3    Hassold, T.J.4
  • 3
    • 0033613977 scopus 로고    scopus 로고
    • Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15
    • Kotzot D: Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15. Am J Med Genet 1999; 82: 266-274.
    • (1999) Am J Med Genet , vol.82 , pp. 266-274
    • Kotzot, D.1
  • 4
    • 51849158675 scopus 로고    scopus 로고
    • Complex and segmental uniparental disomy updated
    • Kotzot D: Complex and segmental uniparental disomy updated. J Med Genet 2008; 45: 545-556.
    • (2008) J Med Genet , vol.45 , pp. 545-556
    • Kotzot, D.1
  • 5
    • 22144446038 scopus 로고    scopus 로고
    • Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated
    • DOI 10.1002/ajmg.a.30483
    • Kotzot D, Utermann G: Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated. Am J Med Genet A 2005; 136: 287-305. (Pubitemid 40973797)
    • (2005) American Journal of Medical Genetics , vol.136 , Issue.3 , pp. 287-305
    • Kotzot, D.1    Utermann, G.2
  • 6
    • 0019996940 scopus 로고
    • Recombinant chromosome 18 in two offspring of a chromosome 18 inversion heterozygote
    • Andrews T, Gardiner AC, Boon AR: Recombinant chromosome 18 in two offspring of a chromosome 18 inversion heterozygote. Ann Genet 1982; 25: 185-188. (Pubitemid 12054694)
    • (1982) Annales de Genetique , vol.25 , Issue.3 , pp. 185-188
    • Andrews, T.1    Gardiner, A.C.2    Boon, A.R.3
  • 7
    • 0026069941 scopus 로고
    • Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q21.3)
    • Asano T, Ikeuchi T, Shinohara T, Enokido H, Hashimoto K: Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q21.3). Jinrui Idengaku Zasshi 1991; 36: 257-265.
    • (1991) Jinrui Idengaku Zasshi , vol.36 , pp. 257-265
    • Asano, T.1    Ikeuchi, T.2    Shinohara, T.3    Enokido, H.4    Hashimoto, K.5
  • 10
    • 0017898275 scopus 로고
    • Abnormalities resulting from a familial pericentric inversion of chromosome 18
    • Kukolich MK, Althaus BW, Sears JW, Mankinen CB, Lewandowski RC: Abnormalities resulting froma familial pericentric inversion of chromosome 18. Clin Genet 1978; 14: 98-104. (Pubitemid 8398419)
    • (1978) Clinical Genetics , vol.14 , Issue.2 , pp. 98-104
    • Kukolich, M.K.1    Althaus, B.W.2    Sears, J.W.3
  • 11
    • 0018835712 scopus 로고
    • Duplication-deficiency of chromosome 18, resulting from recombination of a paternal pericentric inversion, with a note for genetic counselling
    • Teyssier JR, Bajolle F: Duplication-deficiency of chromosome 18, resulting from recombination of a paternal pericentric inversion, with a note for genetic counselling. Hum Genet 1980; 53: 195-200. (Pubitemid 10128637)
    • (1980) Human Genetics , vol.53 , Issue.2 , pp. 195-200
    • Teyssier, J.R.1    Bajolle, F.2
  • 12
    • 0018593398 scopus 로고
    • Autosomale chromosomenaberrationen
    • Schinzel A: Autosomale chromosomenaberrationen. Arch Genet (Zur) 1979; 52: 1-4.
    • (1979) Arch Genet (Zur) , vol.52 , pp. 1-4
    • Schinzel, A.1
  • 13
    • 0017757317 scopus 로고
    • Trisomy 18qter and trisomy mapping of chromosome 18
    • Turleau C, de Grouchy J: Trisomy 18qter and trisomy mapping of chromosome 18. Clin Genet 1977; 12: 361-371. (Pubitemid 8244589)
    • (1977) Clinical Genetics , vol.12 , Issue.6 , pp. 361-371
    • Turleau, C.1    De Grouchy, J.2
  • 14
    • 0017098908 scopus 로고
    • Partial monosomy and partial trisomy 18 in two offspring of carrier pericentric inversion 18
    • Vianna-Morgante AM, Nozaki MJ, Ortega CC, Coates U, Yamamura Y: Partial monosomy and partial trisomy 18 in two offspring of carrier pericentric inversion 18. J Med Genet 1976; 13: 366-370.
    • (1976) J Med Genet , vol.13 , pp. 366-370
    • Vianna-Morgante, A.M.1    Nozaki, M.J.2    Ortega, C.C.3    Coates, U.4    Yamamura, Y.5
  • 15
    • 0017683809 scopus 로고
    • Risk for recombinants in pericentric inversion of the (p11q21) region of chromosome 18
    • Vigi V, Maraschio P, Bosi G, Guerini P, Fraccaro M: Risk for recombinants in pericentric inversion of the (p11 to q21) region of chromosome 18. Hum Genet 1977; 37: 1-5. (Pubitemid 8113960)
    • (1977) Human Genetics , vol.37 , Issue.1 , pp. 1-5
    • Vigi, V.1    Maraschio, P.2    Bosi, G.3
  • 16
    • 0021012855 scopus 로고
    • Clinical implications of chromosomal inversions. A pericentric inversion in No. 18 segregating in a family ascertained through an abnormal proband
    • Martin AO, Simpson JL, Deddish RB, Elias S: Clinical implications of chromosomal inversions. A pericentric inversion in no.18 segregating in a family ascertained through an abnormal proband. Am J Perinatol 1983; 1: 81-88. (Pubitemid 14152828)
    • (1983) American Journal of Perinatology , vol.1 , Issue.1 , pp. 81-88
    • Martin, A.O.1    Simpson, J.L.2    Deddish, R.B.3    Elias, S.4
  • 17
    • 0030455386 scopus 로고    scopus 로고
    • Partial deletion of 18p and partial duplication of 18q caused by a paternal pericentric inversion
    • Israels T, Hoovers J, Turpin HM, Wijburg FA, Hennekam RC: Partial deletion of 18p and partial duplication of 18q caused by a paternal pericentric inversion. Clin Genet 1996; 50: 520-524. (Pubitemid 27075367)
    • (1996) Clinical Genetics , vol.50 , Issue.6 , pp. 520-524
    • Israels, T.1    Hoovers, J.2    Turpijn, H.M.3    Wijburg, F.A.4    Hennekam, R.C.M.5
  • 18
    • 0030704303 scopus 로고    scopus 로고
    • High recurrence of recombinants in a family with pericentric inversion of chromosome 18
    • Mejia-Baltodano G, Babadilla L, Gonzalez RM, Barros-Nunez P: High recurrence of recombinants in a family with pericentric inversion of chromosome 18. Ann Genet 1997; 40: 164-168. (Pubitemid 27490206)
    • (1997) Annales de Genetique , vol.40 , Issue.3 , pp. 164-168
    • Mejia-Baltodano, G.1    Bobadilla, L.2    Gonzalez, R.-M.3    Barros-Nunez, P.4
  • 19
    • 19944431941 scopus 로고    scopus 로고
    • Familial pericentric inversion of chromosome 18: Behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome
    • Vermeulen SJ, Speleman F, Vanransbeeck L et al: Familial pericentric inversion of chromosome 18: Behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome. Eur J Hum Genet 2005; 13: 52-58.
    • (2005) Eur J Hum Genet , vol.13 , pp. 52-58
    • Vermeulen, S.J.1    Speleman, F.2    Vanransbeeck, L.3
  • 26
    • 23744487028 scopus 로고    scopus 로고
    • Directly transmitted unbalanced chromosome abnormalities and euchromatic variants
    • DOI 10.1136/jmg.2004.026955
    • Barber JCK: Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J Med Genet 2005; 42: 609-629. (Pubitemid 41129033)
    • (2005) Journal of Medical Genetics , vol.42 , Issue.8 , pp. 609-629
    • Barber, J.C.K.1
  • 27
    • 24344476671 scopus 로고    scopus 로고
    • Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16
    • DOI 10.1101/gr.3732505
    • Goidts V, Szamalek JM, de Jong PJ et al: Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16. Genome Res 2005; 15: 1232-1242. (Pubitemid 41247913)
    • (2005) Genome Research , vol.15 , Issue.9 , pp. 1232-1242
    • Goidts, V.1    Szamalek, J.M.2    De Jong, P.J.3    Cooper, D.N.4    Chuzhanova, N.5    Hameister, H.6    Kehrer-Sawatzki, H.7
  • 29
    • 0018939994 scopus 로고
    • A new genetic concept: Uniparental disomy and its potential effect, isodisomy
    • DOI 10.1002/ajmg.1320060207
    • Engel E: A new genetic concept: Uniparental disomy and its potential effect, isodisomy. Am J Med Genet 1980; 6: 137-143. (Pubitemid 10004821)
    • (1980) American Journal of Medical Genetics , vol.6 , Issue.2 , pp. 137-143
    • Engel, E.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.