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Volumn 69, Issue 4, 1997, Pages 413-417

A patient with interstitial deletion of the short arm of chromosome 3 (pter→p21.2::p12→qter) and a CHARGE-like phenotype

Author keywords

CHARGE syndrome; chromosome 3p; interstitial deletion; multiple congenital anomalies

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 3P; CLINICAL FEATURE; HUMAN; INFANT; INTERSTITIAL CHROMOSOME DELETION; MALE; PRIORITY JOURNAL; SYNDROME CHARGE;

EID: 0031005946     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970414)69:4<413::AID-AJMG15>3.0.CO;2-Q     Document Type: Article
Times cited : (31)

References (20)
  • 2
    • 0028947785 scopus 로고
    • Deletion of chromosome 3 and a 3;20 reciprocal translocation demonstrated by chromosome painting
    • Crispino B, Cardoso H, Mimbacas A, Méndez V (1995): Deletion of chromosome 3 and a 3;20 reciprocal translocation demonstrated by chromosome painting. Am J Med Genet 55:27-29.
    • (1995) Am J Med Genet , vol.55 , pp. 27-29
    • Crispino, B.1    Cardoso, H.2    Mimbacas, A.3    Méndez, V.4
  • 3
    • 0022618852 scopus 로고
    • The spectrum of clinical features in CHARGE association
    • Davenport SLH, Hefner MA, Mitchell JA (1986): The spectrum of clinical features in CHARGE association. Clin Genet 29:298-310.
    • (1986) Clin Genet , vol.29 , pp. 298-310
    • Davenport, S.L.H.1    Hefner, M.A.2    Mitchell, J.A.3
  • 4
    • 0001869799 scopus 로고
    • Detection of microdeletions of 22q11.2 with fluorescence in situ hybridization (FISH): Diagnosis of DiGeorge syndrome (DGS), velo-cardiofacial (VCF) syndrome, CHARGE association and conotruncal cardiac malformations
    • Emanuel BS, Budarf ML, Sellinger B, Goldmuntz E, Driscoll DA (1992): Detection of microdeletions of 22q11.2 with fluorescence in situ hybridization (FISH): diagnosis of DiGeorge syndrome (DGS), velo-cardiofacial (VCF) syndrome, CHARGE association and conotruncal cardiac malformations. Am J Hum Genet 51 (suppl): A3.
    • (1992) Am J Hum Genet , vol.51 , Issue.SUPPL.
    • Emanuel, B.S.1    Budarf, M.L.2    Sellinger, B.3    Goldmuntz, E.4    Driscoll, D.A.5
  • 5
    • 0018348787 scopus 로고
    • Choanal atresia and associated multiple anomalies
    • Hall BD (1979): Choanal atresia and associated multiple anomalies. J Pediatr 95:395-398.
    • (1979) J Pediatr , vol.95 , pp. 395-398
    • Hall, B.D.1
  • 6
    • 0023690770 scopus 로고
    • Interstitial deletion of the short arm of chromosome 3
    • Hertz JM, Coerdt W, Hahnemann N, Schwartz M (1988): Interstitial deletion of the short arm of chromosome 3. Hum Genet 79:389-391.
    • (1988) Hum Genet , vol.79 , pp. 389-391
    • Hertz, J.M.1    Coerdt, W.2    Hahnemann, N.3    Schwartz, M.4
  • 7
    • 0025968760 scopus 로고
    • Balanced t(6;8)(6p8p;6q8q) and the CHARGE association
    • Hurst JA, Meinecke P, Baraitser M (1991): Balanced t(6;8)(6p8p;6q8q) and the CHARGE association. J Med Genet 28:54-55.
    • (1991) J Med Genet , vol.28 , pp. 54-55
    • Hurst, J.A.1    Meinecke, P.2    Baraitser, M.3
  • 9
    • 0018614750 scopus 로고
    • Interstitial deletion 3p associated with t(3p-, 18q+) translocation
    • Kogame K, Kudo H (1979): Interstitial deletion 3p associated with t(3p-, 18q+) translocation. Jpn J Human Genet 24:245-252.
    • (1979) Jpn J Human Genet , vol.24 , pp. 245-252
    • Kogame, K.1    Kudo, H.2
  • 11
  • 12
    • 0021173101 scopus 로고
    • Interstitial deletion of chromosome 3p: Report of a patient and delineation of a proximal 3p deletion syndrome
    • Neri G, Reynolds JF, Westphal J, Hinz J, Daniel A (1984): Interstitial deletion of chromosome 3p: Report of a patient and delineation of a proximal 3p deletion syndrome. Am J Med Genet 19:189-193.
    • (1984) Am J Med Genet , vol.19 , pp. 189-193
    • Neri, G.1    Reynolds, J.F.2    Westphal, J.3    Hinz, J.4    Daniel, A.5
  • 13
    • 0029014844 scopus 로고
    • CHARGE association in a child with de novo inverted duplication (14)(q22 → q24.3)
    • North KN, Wu BL, Cao BN, Whiteman DAH, Korf BR (1995): CHARGE association in a child with de novo inverted duplication (14)(q22 → q24.3). Am J Med Genet 57:610-614.
    • (1995) Am J Med Genet , vol.57 , pp. 610-614
    • North, K.N.1    Wu, B.L.2    Cao, B.N.3    Whiteman, D.A.H.4    Korf, B.R.5
  • 14
    • 0023857059 scopus 로고
    • A reappraisal of the CHARGE association
    • Oley CA, Baraitser M, Grant DB (1988): A reappraisal of the CHARGE association. J Med Genet 25:147-156.
    • (1988) J Med Genet , vol.25 , pp. 147-156
    • Oley, C.A.1    Baraitser, M.2    Grant, D.B.3
  • 15
    • 0019425377 scopus 로고
    • Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association
    • Pagon RA, Graham JM, Zonana J, Yong S-L (1981): Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 2:223-227.
    • (1981) J Pediatr , vol.2 , pp. 223-227
    • Pagon, R.A.1    Graham, J.M.2    Zonana, J.3    Yong, S.-L.4
  • 16
    • 0022515577 scopus 로고
    • Brief clinical report: Interstitial deletion of the short arm of chromosome 3 (3p14)
    • Short MP, Shah KD, Djamdjian S, Dische MR, Gilbert F (1986): Brief clinical report: Interstitial deletion of the short arm of chromosome 3 (3p14). Am J Med Genet 24:649-652.
    • (1986) Am J Med Genet , vol.24 , pp. 649-652
    • Short, M.P.1    Shah, K.D.2    Djamdjian, S.3    Dische, M.R.4    Gilbert, F.5
  • 17
    • 4243320926 scopus 로고
    • Congenital anomalies associated with partial deletion of the long arm of chromosome 4 [46,XY, del(4)(q31)]
    • 1981
    • Shroff M, Israel J, Rosenthal F (1981): Congenital anomalies associated with partial deletion of the long arm of chromosome 4 [46,XY, del(4)(q31)]. Am J Hum Genet 1981;33:122A.
    • (1981) Am J Hum Genet , vol.33
    • Shroff, M.1    Israel, J.2    Rosenthal, F.3
  • 18
    • 0019834402 scopus 로고
    • A girl with an interstitial deletion of the short arm of chromosome 3 studied with a high-resolution banding technique
    • Sichong Z, Bui T-H, Castro I, Iselius L, Håkansson S, Lundmark K-M (1981): A girl with an interstitial deletion of the short arm of chromosome 3 studied with a high-resolution banding technique. Hum Genet 59:178-181.
    • (1981) Hum Genet , vol.59 , pp. 178-181
    • Sichong, Z.1    Bui, T.-H.2    Castro, I.3    Iselius, L.4    Håkansson, S.5    Lundmark, K.-M.6
  • 19
    • 0018222668 scopus 로고
    • Inherited partial trisomy 8q (22 → qter)
    • Townes PL, White MR (1978): Inherited partial trisomy 8q (22 → qter). Am J Dis Child 132:498-501.
    • (1978) Am J Dis Child , vol.132 , pp. 498-501
    • Townes, P.L.1    White, M.R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.