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Volumn 132 A, Issue 4, 2005, Pages 447-449

A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for "ring chromosome 2 syndrome" [2]

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHROMOSOME 2; CHROMOSOME ARM; CHROMOSOME DELETION; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; CYTOGENETICS; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KARYOTYPING; LETTER; MALE; MOSAICISM; NEWBORN; PHYSICAL EXAMINATION; PRENATAL PERIOD; PRIORITY JOURNAL; RING CHROMOSOME; SYNDROME;

EID: 12944284660     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30437     Document Type: Letter
Times cited : (6)

References (17)
  • 3
    • 3342962346 scopus 로고    scopus 로고
    • Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy-like phenotype
    • Chassaing N, De Mas P, Tauber M, Vincent MC, Julia S, Bourrouillou G, Calvas P, Bieth E. 2004. Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy-like phenotype. Am J Med Genet 128A:410-413.
    • (2004) Am J Med Genet , vol.128 A , pp. 410-413
    • Chassaing, N.1    De Mas, P.2    Tauber, M.3    Vincent, M.C.4    Julia, S.5    Bourrouillou, G.6    Calvas, P.7    Bieth, E.8
  • 5
    • 0019800346 scopus 로고
    • The cytogenetic and clinical implications of a ring chromosome 2
    • Cote GB, Katsantoni A, Deligeorgis D. 1981. The cytogenetic and clinical implications of a ring chromosome 2. Ann Genet 24:231-235.
    • (1981) Ann Genet , vol.24 , pp. 231-235
    • Cote, G.B.1    Katsantoni, A.2    Deligeorgis, D.3
  • 6
    • 0038750668 scopus 로고    scopus 로고
    • Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: A cause of minute terminal chromosomal imbalances
    • Daniel A, Baker E, Chia N, Haan E, Malafiej P, Hinton L, Clarke N, Ades L, Darmanian A, Callen D. 2003. Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: A cause of minute terminal chromosomal imbalances. Am J Med Genet 117A:57-64.
    • (2003) Am J Med Genet , vol.117 A , pp. 57-64
    • Daniel, A.1    Baker, E.2    Chia, N.3    Haan, E.4    Malafiej, P.5    Hinton, L.6    Clarke, N.7    Ades, L.8    Darmanian, A.9    Callen, D.10
  • 7
    • 17344393674 scopus 로고    scopus 로고
    • A case of ring chromosome 2 with growth retardation, mild dysmorphism, and microdeletion of 2p detected using FISH
    • Dee SL, Clark AT, Willatt LR, Yates JR. 2001. A case of ring chromosome 2 with growth retardation, mild dysmorphism, and microdeletion of 2p detected using FISH. J Med Genet 38:E32.
    • (2001) J Med Genet , vol.38
    • Dee, S.L.1    Clark, A.T.2    Willatt, L.R.3    Yates, J.R.4
  • 8
    • 0141857855 scopus 로고    scopus 로고
    • Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t[2;6][q37.3;q26]
    • Giardino D, Finelli P, Gottardi G, De Canal G, Della Monica M, Lonardo F, Scarano G, Larizza L. 2003. Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t[2;6][q37.3;q26]. Am J Med Genet 122A:261-265.
    • (2003) Am J Med Genet , vol.122 A , pp. 261-265
    • Giardino, D.1    Finelli, P.2    Gottardi, G.3    De Canal, G.4    Della Monica, M.5    Lonardo, F.6    Scarano, G.7    Larizza, L.8
  • 11
    • 0018324976 scopus 로고
    • Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation
    • Maraschio P, Danesino C, Garau A, Saputo V, Vigi V, Volpato S. 1979. Three cases of ring chromosome 2, one derived from a paternal 2/6 translocation. Hum Genet 48:157-167.
    • (1979) Hum Genet , vol.48 , pp. 157-167
    • Maraschio, P.1    Danesino, C.2    Garau, A.3    Saputo, V.4    Vigi, V.5    Volpato, S.6
  • 12
    • 0000813303 scopus 로고
    • The production of homozygous deficient tissues with mutant characteristics by means of the aberrant behavior of ring-shaped chromosomes
    • McClintock B. 1938. The production of homozygous deficient tissues with mutant characteristics by means of the aberrant behavior of ring-shaped chromosomes. Genetics 23:315-376.
    • (1938) Genetics , vol.23 , pp. 315-376
    • McClintock, B.1
  • 15
    • 0018172172 scopus 로고
    • 46,XX/46,XX,r [2][p25q37] mosaicism: Clinical and cytogenetic studies
    • Sutherland GR, Carter RF. 1978. 46,XX/46,XX,r [2][p25q37] mosaicism: Clinical and cytogenetic studies. Ann Genet 21:164-167.
    • (1978) Ann Genet , vol.21 , pp. 164-167
    • Sutherland, G.R.1    Carter, R.F.2
  • 16
    • 0019165943 scopus 로고
    • Ring chromosome 2 in a child with growth failure and few congenital abnormalities
    • Vigfusson NV, Kapstafer KJ, Lloyd MA. 1980. Ring chromosome 2 in a child with growth failure and few congenital abnormalities. Am J Med Genet 7:383-389.
    • (1980) Am J Med Genet , vol.7 , pp. 383-389
    • Vigfusson, N.V.1    Kapstafer, K.J.2    Lloyd, M.A.3
  • 17
    • 0019901038 scopus 로고
    • Human chromosome 2 rod/ring mosaicism: Probable origin by prezygotic breakage and intrachromosomal exchange
    • Wyandt HE, Kasprzak R, Lamb A, Willson K, Wilson WG, Kelly TE. 1982. Human chromosome 2 rod/ring mosaicism: Probable origin by prezygotic breakage and intrachromosomal exchange. Cytogenet Cell Genet 33:222-231.
    • (1982) Cytogenet Cell Genet , vol.33 , pp. 222-231
    • Wyandt, H.E.1    Kasprzak, R.2    Lamb, A.3    Willson, K.4    Wilson, W.G.5    Kelly, T.E.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.