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Volumn 35, Issue 11, 1998, Pages 939-942

Two 22q telomere deletions serendipitously detected by FISH

Author keywords

Absent speech; Angelman syndrome; del(22)(q13.3)

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; DIAGNOSTIC ACCURACY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HAPPY PUPPET SYNDROME; HUMAN; HUMAN CELL; MALE; MUSCLE HYPOTONIA; PHENOTYPE; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; SPEECH DISORDER; TELOMERE;

EID: 0031791686     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.11.939     Document Type: Article
Times cited : (66)

References (14)
  • 1
    • 0022362663 scopus 로고
    • A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome
    • Watt JL, Olson IA, Johnston AW, Ross HS, Couzin DA, Stephen GS. A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome. J Med Gene: 1985;22:283-7.
    • (1985) J Med Gene , vol.22 , pp. 283-287
    • Watt, J.L.1    Olson, I.A.2    Johnston, A.W.3    Ross, H.S.4    Couzin, D.A.5    Stephen, G.S.6
  • 3
    • 0023987239 scopus 로고
    • Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q)
    • Herman GE, Greenberg F, Ledbetter DH. Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q). Am J Med Genet 1988;29:909-15.
    • (1988) Am J Med Genet , vol.29 , pp. 909-915
    • Herman, G.E.1    Greenberg, F.2    Ledbetter, D.H.3
  • 4
    • 0002925209 scopus 로고
    • Two patients with 22q13.3 deletions have similar facies and developmental patterns
    • Zwaigenbaum L, Siegel-Bartelt J, Teshima I, Ho C. Two patients with 22q13.3 deletions have similar facies and developmental patterns. Am J Hum Genet 1990;47:A45.
    • (1990) Am J Hum Genet , vol.47
    • Zwaigenbaum, L.1    Siegel-Bartelt, J.2    Teshima, I.3    Ho, C.4
  • 5
    • 0026728603 scopus 로고
    • Terminal 22q deletion associated with a partial deficiency of arylsulphatase A
    • Narahara K, Takahashi Y, Murakami M, et al. Terminal 22q deletion associated with a partial deficiency of arylsulphatase A. J Med Genet 1992;29:432-3.
    • (1992) J Med Genet , vol.29 , pp. 432-433
    • Narahara, K.1    Takahashi, Y.2    Murakami, M.3
  • 6
    • 0026764397 scopus 로고
    • Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion
    • Phelan MC, Thomas GR, Saul RA, et al. Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion. Am J Med Genet 1992;43:872-6.
    • (1992) Am J Med Genet , vol.43 , pp. 872-876
    • Phelan, M.C.1    Thomas, G.R.2    Saul, R.A.3
  • 7
    • 0028053136 scopus 로고
    • Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3
    • Nesslinger NJ, Gorski JL, Kurczynski TW, et al. Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3. Am J Hum Genet 1994;54:464-72.
    • (1994) Am J Hum Genet , vol.54 , pp. 464-472
    • Nesslinger, N.J.1    Gorski, J.L.2    Kurczynski, T.W.3
  • 8
    • 0031064082 scopus 로고    scopus 로고
    • Partial monosomy for chromosome 22 in a girl with mental retardation
    • Yong YP, Knight LA, Yong MH, Lam S, Ho LY. Partial monosomy for chromosome 22 in a girl with mental retardation. Singapore Med J 1997;38:85-6.
    • (1997) Singapore Med J , vol.38 , pp. 85-86
    • Yong, Y.P.1    Knight, L.A.2    Yong, M.H.3    Lam, S.4    Ho, L.Y.5
  • 9
    • 0030795894 scopus 로고    scopus 로고
    • Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients
    • Doheny KF, McDermid HE, Harum K, Thomas GH, Raymond GV. Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients. J Med Genet 1997;34:640-4.
    • (1997) J Med Genet , vol.34 , pp. 640-644
    • Doheny, K.F.1    McDermid, H.E.2    Harum, K.3    Thomas, G.H.4    Raymond, G.V.5
  • 11
    • 0029965984 scopus 로고    scopus 로고
    • Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities
    • Ning Y, Rosenberg M, Biesecker LG, Ledbetter DH. Isolation of the human chromosome 22q telomere and its application to detection of cryptic chromosomal abnormalities. Hum Genet 1996;97:765-9.
    • (1996) Hum Genet , vol.97 , pp. 765-769
    • Ning, Y.1    Rosenberg, M.2    Biesecker, L.G.3    Ledbetter, D.H.4
  • 12
    • 0031046839 scopus 로고    scopus 로고
    • A revision of the lissencephaly and Miller-Dieker syndrome critical region in chromosome 17p13.3
    • Chong SS, Pack SD, Roschke AV, et al. A revision of the lissencephaly and Miller-Dieker syndrome critical region in chromosome 17p13.3. Hum Mol Genet 1997;6:147-55.
    • (1997) Hum Mol Genet , vol.6 , pp. 147-155
    • Chong, S.S.1    Pack, S.D.2    Roschke, A.V.3
  • 13
    • 0029011991 scopus 로고
    • Molecular characterization of two proximal deletion breakpoints in both Prader-Willi and Angelman syndrome patients
    • Christian SL, Robinson WP, Huang B, et al. Molecular characterization of two proximal deletion breakpoints in both Prader-Willi and Angelman syndrome patients. Am J Hum Genet 1995;57:40-8.
    • (1995) Am J Hum Genet , vol.57 , pp. 40-48
    • Christian, S.L.1    Robinson, W.P.2    Huang, B.3
  • 14
    • 0031020786 scopus 로고    scopus 로고
    • Molecular characterization of a 130-kb terminal microdeledon at 22q in a child with mild mental retardation
    • Wong AC, Ning Y, Flint J, et al. Molecular characterization of a 130-kb terminal microdeledon at 22q in a child with mild mental retardation. Am J Hum Genet 1997;60:113-20.
    • (1997) Am J Hum Genet , vol.60 , pp. 113-120
    • Wong, A.C.1    Ning, Y.2    Flint, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.