메뉴 건너뛰기




Volumn 149, Issue 3, 2009, Pages 490-495

Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability

Author keywords

Chromosome aberrations; Chromosomes; Cytogenetics; Human; Intellectual disability; Microarray analysis; Y

Indexed keywords

ADULT; ARTICLE; ASPERGER SYNDROME; BICUSPID AORTIC VALVE; CASE REPORT; CHILD; CHROMOSOME DELETION Y; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; COMPARATIVE GENOMIC HYBRIDIZATION; CONDUCTION DEAFNESS; CYTOGENETICS; DUANE RETRACTION SYNDROME; DYSPRAXIA; FACE DYSMORPHIA; HUMAN; HYPERMETROPIA; INTELLECTUAL IMPAIRMENT; LANGUAGE DISABILITY; LEARNING DISORDER; MALE; MOTOR DYSFUNCTION; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; SCHOOL CHILD; SPEECH DISORDER; SPEECH THERAPY; Y CHROMOSOME;

EID: 61749097210     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32535     Document Type: Article
Times cited : (2)

References (15)
  • 1
    • 0024520942 scopus 로고
    • Identification and characterisation of a small marker chromosome using non-isotopic in situ hybridisation with X and Y specific probes
    • Crolla JA, Smith M, Docherty Z. 1989. Identification and characterisation of a small marker chromosome using non-isotopic in situ hybridisation with X and Y specific probes. J Med Genet 26:192-194.
    • (1989) J Med Genet , vol.26 , pp. 192-194
    • Crolla, J.A.1    Smith, M.2    Docherty, Z.3
  • 2
    • 37249022297 scopus 로고    scopus 로고
    • De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previdere C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O. 2007. Cryptic deletions are a common finding in balanced reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet 44:750-762.
    • De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previdere C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O. 2007. Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet 44:750-762.
  • 4
    • 0028072677 scopus 로고
    • Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases
    • Hsu LY. 1994. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet 53:108-140.
    • (1994) Am J Med Genet , vol.53 , pp. 108-140
    • Hsu, L.Y.1
  • 5
    • 34447311094 scopus 로고    scopus 로고
    • Analysis of sex chromosome abnormalities using X and Y chromosome DNA tiling path arrays
    • Karcanias AC, Ichimura K, Mitchell MJ, Sargent CA, Affara NA. 2007. Analysis of sex chromosome abnormalities using X and Y chromosome DNA tiling path arrays. J Med Genet 44:429-436.
    • (2007) J Med Genet , vol.44 , pp. 429-436
    • Karcanias, A.C.1    Ichimura, K.2    Mitchell, M.J.3    Sargent, C.A.4    Affara, N.A.5
  • 6
    • 15844427598 scopus 로고    scopus 로고
    • Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: No difference in deletion size for patients with and without mental retardation
    • Lesca G, Sinilnikova O, Theuil G, Blanc J, Edery P, Till M. 2005. Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation. Clin Genet 67:367-368.
    • (2005) Clin Genet , vol.67 , pp. 367-368
    • Lesca, G.1    Sinilnikova, O.2    Theuil, G.3    Blanc, J.4    Edery, P.5    Till, M.6
  • 7
    • 0015403680 scopus 로고
    • Normal male development with Y chromosome long arm deletion (Yq-)
    • Meisner LF, Inhorn SL. 1972. Normal male development with Y chromosome long arm deletion (Yq-). J Med Genet 9:373-377.
    • (1972) J Med Genet , vol.9 , pp. 373-377
    • Meisner, L.F.1    Inhorn, S.L.2
  • 8
    • 34548179557 scopus 로고    scopus 로고
    • Constitutional duplication of a region of chromosome Yp encoding AMELY, PRKY, and TBL1Y: Implications for sex chromosome analysis and bone marrow engraftment analysis
    • Murphy KM, Cohen JS, Goodrich A, Long PP, Griffin CA. 2007. Constitutional duplication of a region of chromosome Yp encoding AMELY, PRKY, and TBL1Y: Implications for sex chromosome analysis and bone marrow engraftment analysis. J Mol Diagn 9:408-413.
    • (2007) J Mol Diagn , vol.9 , pp. 408-413
    • Murphy, K.M.1    Cohen, J.S.2    Goodrich, A.3    Long, P.P.4    Griffin, C.A.5
  • 9
    • 0019983070 scopus 로고
    • Yq- in a child with livedo reticularis, snub nose, microcephaly, and profound mental retardation
    • Podruch PE, Yen FS, Dinno ND, Weisskopf B. 1982. Yq- in a child with livedo reticularis, snub nose, microcephaly, and profound mental retardation. J Med Genet 19:377-380.
    • (1982) J Med Genet , vol.19 , pp. 377-380
    • Podruch, P.E.1    Yen, F.S.2    Dinno, N.D.3    Weisskopf, B.4
  • 10
    • 0029033299 scopus 로고
    • Clinical features of nine males with molecularly defined deletions of the Y chromosome long arm
    • Salo P, Ignatius J, Simola KO, Tahvanainen E, Kaariainen H. 1995. Clinical features of nine males with molecularly defined deletions of the Y chromosome long arm. J Med Genet 32:711-715.
    • (1995) J Med Genet , vol.32 , pp. 711-715
    • Salo, P.1    Ignatius, J.2    Simola, K.O.3    Tahvanainen, E.4    Kaariainen, H.5
  • 12
    • 0037967242 scopus 로고    scopus 로고
    • Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A, Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R, Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R, McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S, Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP, Waterston RH, Wilson RK, Rozen S, Page DC.2003. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423:825-837.
    • Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A, Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R, Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R, McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S, Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP, Waterston RH, Wilson RK, Rozen S, Page DC.2003. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423:825-837.
  • 13
    • 34249680839 scopus 로고    scopus 로고
    • Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation
    • Stankiewicz P, Beaudet AL. 2007. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev 17:182-192.
    • (2007) Curr Opin Genet Dev , vol.17 , pp. 182-192
    • Stankiewicz, P.1    Beaudet, A.L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.