메뉴 건너뛰기




Volumn 91, Issue 4, 2000, Pages 273-276

Apparent Sotos syndrome (Cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism

Author keywords

Partial trisomy 20p; Somatostatin receptor gene 4; Sotos syndrome

Indexed keywords

SOMATOSTATIN RECEPTOR;

EID: 0034709135     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000410)91:4<273::AID-AJMG6>3.0.CO;2-H     Document Type: Article
Times cited : (21)

References (25)
  • 1
    • 0022573461 scopus 로고
    • Cerebral gigantism (sotos syndrome) in two patients with fra(X) chromosomes
    • Beemer FA, Veenema H, de Pater JM. 1986. Cerebral gigantism (Sotos syndrome) in two patients with fra(X) chromosomes. Am J Med Genet 23:221-226.
    • (1986) Am J Med Genet , vol.23 , pp. 221-226
    • Beemer, F.A.1    Veenema, H.2    De Pater, J.M.3
  • 3
    • 0022344675 scopus 로고
    • Trisomy 7p due to a mosaic normal/dir dup(7)(p13→p22). Syndrome delineation, critical segment assignment, and a comment on duplications
    • Cantú JM, Rívas F, Ruiz C, Barajas LO, Moller M, Rivera H. 1985. Trisomy 7p due to a mosaic normal/dir dup(7)(p13→p22). Syndrome delineation, critical segment assignment, and a comment on duplications. Ann Génét 28:254-257.
    • (1985) Ann Génét , vol.28 , pp. 254-257
    • Cantú, J.M.1    Rívas, F.2    Ruiz, C.3    Barajas, L.O.4    Moller, M.5    Rivera, H.6
  • 4
    • 0025078219 scopus 로고
    • Syndrome of the month: Sotos syndrome
    • Cole TRP, Hughes HE. 1990. Syndrome of the month: Sotos syndrome. J Med Genet 27:571-576.
    • (1990) J Med Genet , vol.27 , pp. 571-576
    • Cole, T.R.P.1    Hughes, H.E.2
  • 6
    • 0031841789 scopus 로고    scopus 로고
    • Mosaicism for a tandem duplication dup(1)(q12q22) in an 18 year old female
    • de Silva D, Massie D, Drummond J, Couzin D, Dean JCS. 1998. Mosaicism for a tandem duplication dup(1)(q12q22) in an 18 year old female. J Med Genet 35:600-603.
    • (1998) J Med Genet , vol.35 , pp. 600-603
    • De Silva, D.1    Massie, D.2    Drummond, J.3    Couzin, D.4    Dean, J.C.S.5
  • 7
    • 0027499058 scopus 로고
    • Mosaicism for duplication 12q (12q13→q24.2) in a dysmorphic male infant
    • Dixon JW, Costa T, Teshima IE. 1993. Mosaicism for duplication 12q (12q13→q24.2) in a dysmorphic male infant. J Med Genet 30:70-72.
    • (1993) J Med Genet , vol.30 , pp. 70-72
    • Dixon, J.W.1    Costa, T.2    Teshima, I.E.3
  • 8
    • 0021677314 scopus 로고
    • The fragile X syndrome: A study of 83 families
    • Fryns JP. 1984. The fragile X syndrome: a study of 83 families. Clin Genet 26:497-528.
    • (1984) Clin Genet , vol.26 , pp. 497-528
    • Fryns, J.P.1
  • 9
    • 0025277270 scopus 로고
    • Selective deficiency of antibody responses to polysaccharide antigens in a child mosaic for partial trisomy 1 [46,XX,dir dup (1)(q12→23)/46,XX]
    • Germain-Lee E, Schiffman G, Mules E, Lederman H. 1990. Selective deficiency of antibody responses to polysaccharide antigens in a child mosaic for partial trisomy 1 [46,XX,dir dup (1)(q12→23)/46,XX]. J Pediatr 117:96-99.
    • (1990) J Pediatr , vol.117 , pp. 96-99
    • Germain-Lee, E.1    Schiffman, G.2    Mules, E.3    Lederman, H.4
  • 10
    • 0026692754 scopus 로고
    • 20p duplication as a result of parental translocation: Familial case report and a contribution to the delineation of the syndrome
    • Grammatico P, Cupilari F, Di Rosa C, Falcolini M, Del porto G. 1992. 20p duplication as a result of parental translocation: familial case report and a contribution to the delineation of the syndrome. Clin Genet 41: 285-289.
    • (1992) Clin Genet , vol.41 , pp. 285-289
    • Grammatico, P.1    Cupilari, F.2    Di Rosa, C.3    Falcolini, M.4    Del Porto, G.5
  • 11
    • 0027429554 scopus 로고
    • Constitutional chromosome anomalies in patients with cerebral gigantism (Sotos syndrome)
    • Haeusler G, Guchey Z, Kolher I, Schober E, Haas O, Frisch H. 1993. Constitutional chromosome anomalies in patients with cerebral gigantism (Sotos syndrome). Klin Padiatr 205:351-353.
    • (1993) Klin Padiatr , vol.205 , pp. 351-353
    • Haeusler, G.1    Guchey, Z.2    Kolher, I.3    Schober, E.4    Haas, O.5    Frisch, H.6
  • 13
    • 0028297939 scopus 로고
    • Child with sotos phenotype and a 5:15 translocation
    • Maroun C, Schmerler S, Hutcheon RG. 1994. Child with Sotos phenotype and a 5:15 translocation. Am J Med Genet 50:291-293.
    • (1994) Am J Med Genet , vol.50 , pp. 291-293
    • Maroun, C.1    Schmerler, S.2    Hutcheon, R.G.3
  • 14
    • 0342801263 scopus 로고
    • A case of cerebral gigantism with familial chromosomal aberration
    • Nakada E, Osawa M, Fukuyama Y, Hasegawa T. 1982. A case of cerebral gigantism with familial chromosomal aberration. Jpn J Hum Genet 27:171-172.
    • (1982) Jpn J Hum Genet , vol.27 , pp. 171-172
    • Nakada, E.1    Osawa, M.2    Fukuyama, Y.3    Hasegawa, T.4
  • 15
    • 0031982120 scopus 로고    scopus 로고
    • A molecular, cytogenetic, and clinical evaluation of mosaic tandem duplication 17p and charcot-marie-tooth type 1a neuropathy
    • Reddy KS, Larsen MB. 1997. A molecular, cytogenetic, and clinical evaluation of mosaic tandem duplication 17p and Charcot-Marie-tooth type 1A neuropathy. J Med Genet 35:169-172.
    • (1997) J Med Genet , vol.35 , pp. 169-172
    • Reddy, K.S.1    Larsen, M.B.2
  • 16
    • 0024261355 scopus 로고
    • Report of a case resembling proteus syndrome with a chromosome abnormality
    • Say B, Carpenter NJ. 1988. Report of a case resembling Proteus syndrome with a chromosome abnormality. Am J Med Genet 31:987-989.
    • (1988) Am J Med Genet , vol.31 , pp. 987-989
    • Say, B.1    Carpenter, N.J.2
  • 17
    • 0025272183 scopus 로고
    • Sotos syndrome and de novo balanced autosomal translocation
    • Schrander-Stumpel CT, Fryns JP, Hamers GG. 1990. Sotos syndrome and de novo balanced autosomal translocation. Clin Genet 37:226-229.
    • (1990) Clin Genet , vol.37 , pp. 226-229
    • Schrander-Stumpel, C.T.1    Fryns, J.P.2    Hamers, G.G.3
  • 18
  • 19
    • 0024805164 scopus 로고
    • Sotos syndrome with a balanced reciprocal translocation t(2;12)(q33.3;q15)
    • Tamaki K, Horie K, Go T, Okuno T, Mikawa H, Hua ZY, Abe T. 1989. Sotos syndrome with a balanced reciprocal translocation t(2;12)(q33.3;q15). Ann Génét 32:244-246.
    • (1989) Ann Génét , vol.32 , pp. 244-246
    • Tamaki, K.1    Horie, K.2    Go, T.3    Okuno, T.4    Mikawa, H.5    Hua, Z.Y.6    Abe, T.7
  • 20
    • 0023244817 scopus 로고
    • Sotos syndrome and fragile X chromosomes
    • Verloes A, Sacre JP, Geubelle F. 1987. Sotos syndrome and fragile X chromosomes. Lancet 2:329.
    • (1987) Lancet , vol.2 , pp. 329
    • Verloes, A.1    Sacre, J.P.2    Geubelle, F.3
  • 22
    • 0026410576 scopus 로고
    • Chromosome aberrations in sotos syndrome
    • Wajntal A, Koiffmann CP. 1991. Chromosome aberrations in Sotos syndrome. Clin Genet 40:472.
    • (1991) Clin Genet , vol.40 , pp. 472
    • Wajntal, A.1    Koiffmann, C.P.2
  • 23
    • 0022379861 scopus 로고
    • Sotos syndrome - Autosomal dominant inheritance substantiated
    • Winship IM. 1985. Sotos syndrome - autosomal dominant inheritance substantiated. Clin Genet 28:243-246.
    • (1985) Clin Genet , vol.28 , pp. 243-246
    • Winship, I.M.1
  • 24
    • 0019917239 scopus 로고
    • A de novo tandem duplication 15 (q21→qter) mosaic
    • Yip MY, Parsons A, Hultén M. 1982. A de novo tandem duplication 15 (q21→qter) mosaic. Clin Genet 22:1-6.
    • (1982) Clin Genet , vol.22 , pp. 1-6
    • Yip, M.Y.1    Parsons, A.2    Hultén, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.