메뉴 건너뛰기




Volumn 64, Issue 5, 2003, Pages 404-413

Omphalocele in trisomy 3q: Further delineation of phenotype

Author keywords

Abdominal wall development; Duplication 3q; Omphalocele; Smallest region of overlap; Trisomy 3q

Indexed keywords

ABDOMINAL WALL; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CHROMOSOME 3Q; CHROMOSOME 4Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME ARM; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION 3; CHROMOSOME TRANSLOCATION 4; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HYPOTHESIS; INFANT; KARYOTYPE 46,XX; MALE; MOLECULAR CLONING; MONOSOMY; OMPHALOCELE; ORGANOGENESIS; PHENOTYPE; PRIORITY JOURNAL; TRISOMY;

EID: 0242525254     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.00159.x     Document Type: Article
Times cited : (25)

References (64)
  • 2
    • 0019795274 scopus 로고
    • The dup(3q) syndrome: Report of eight cases and review of the literature
    • Steinbach P, Adkins WN Jr, Caspar H et al. The dup(3q) syndrome: report of eight cases and review of the literature. Am J Med Genet 1981: 10 (2): 159-177.
    • (1981) Am. J. Med. Genet. , vol.10 , Issue.2 , pp. 159-177
    • Steinbach, P.1    Adkins Jr., W.N.2    Caspar, H.3
  • 3
    • 0017878017 scopus 로고
    • Chromosome 3 duplication q/deletion p syndrome
    • Fineman RM, Hecht F, Ablow RC et al. Chromosome 3 duplication q/deletion p syndrome. Pediatrics 1978: 61 (4): 611-618.
    • (1978) Pediatrics , vol.61 , Issue.4 , pp. 611-618
    • Fineman, R.M.1    Hecht, F.2    Ablow, R.C.3
  • 4
    • 0013864758 scopus 로고
    • Familial de Lange syndrome with chromosome abnormalities
    • Falek A, Schmidt R, Jervis GA. Familial de Lange syndrome with chromosome abnormalities. Pediatrics 1966: 37 (1): 92-101.
    • (1966) Pediatrics , vol.37 , Issue.1 , pp. 92-101
    • Falek, A.1    Schmidt, R.2    Jervis, G.A.3
  • 5
    • 0029381763 scopus 로고
    • Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype
    • Ireland M, English C, Cross I et al. Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype. J Med Genet 1995: 32 (10): 837-838.
    • (1995) J. Med. Genet. , vol.32 , Issue.10 , pp. 837-838
    • Ireland, M.1    English, C.2    Cross, I.3
  • 6
    • 0025898874 scopus 로고
    • A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome
    • Ireland M, English C, Cross I et al. A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome. J Med Genet 1991: 28: 639-640.
    • (1991) J. Med. Genet. , vol.28 , pp. 639-640
    • Ireland, M.1    English, C.2    Cross, I.3
  • 7
    • 0028939240 scopus 로고
    • Duplication 3q syndrome: Molecular delineation of the critical region
    • Aqua MS, Rizzu P, Lindsay EA et al. Duplication 3q syndrome: molecular delineation of the critical region. Am J Med Genet 1995: 55 (1): 33-37.
    • (1995) Am. J. Med. Genet. , vol.55 , Issue.1 , pp. 33-37
    • Aqua, M.S.1    Rizzu, P.2    Lindsay, E.A.3
  • 8
    • 0031037329 scopus 로고    scopus 로고
    • Delineation of a duplication map of chromosome 3q: A new case confirms the exclusion of 3q25-q26.2 from the duplication 3q syndrome critical region
    • Rizzu P, Haddad BR, Vallcorba I et al. Delineation of a duplication map of chromosome 3q: a new case confirms the exclusion of 3q25-q26.2 from the duplication 3q syndrome critical region. Am J Med Genet 1997: 68 (4): 428-432.
    • (1997) Am. J. Med. Genet. , vol.68 , Issue.4 , pp. 428-432
    • Rizzu, P.1    Haddad, B.R.2    Vallcorba, I.3
  • 9
    • 0017855091 scopus 로고
    • The association of chromosome 3 duplication and the Cornelia de Lange syndrome
    • Wilson GN, Hieber VC, Schmickel RD. The association of chromosome 3 duplication and the Cornelia de Lange syndrome. J Pediatr 1978: 93 (5): 783-788.
    • (1978) J. Pediatr. , vol.93 , Issue.5 , pp. 783-788
    • Wilson, G.N.1    Hieber, V.C.2    Schmickel, R.D.3
  • 11
    • 0016767004 scopus 로고
    • Chromosome 3 duplication q2l→qter deletion p25←pter syndrome in children of carriers of a pericentric inversion inv(3)(p25q21)
    • Allderdice PW, Browne N, Murphy DP. Chromosome 3 duplication q2l→qter deletion p25←pter syndrome in children of carriers of a pericentric inversion inv(3)(p25q21). Am J Hum Genet 1975: 27 (6): 699-718.
    • (1975) Am. J. Hum. Genet. , vol.27 , Issue.6 , pp. 699-718
    • Allderdice, P.W.1    Browne, N.2    Murphy, D.P.3
  • 12
    • 0018568354 scopus 로고
    • Trisomy 3q: Two clinically similar but cytogenetically different cases
    • Mulcahy MT, Pemberton PJ, Sprague P. Trisomy 3q: Two clinically similar but cytogenetically different cases. Ann Génét 1979: 22 (4): 217-220.
    • (1979) Ann. Génét. , vol.22 , Issue.4 , pp. 217-220
    • Mulcahy, M.T.1    Pemberton, P.J.2    Sprague, P.3
  • 13
    • 0030035471 scopus 로고    scopus 로고
    • Partial duplication of 3q and distal deletion of 11q in a stillbirth with an omphalocele containing the liver, short limbs, and intrauterine growth retardation
    • Chen CP, Liu FF, Jan SW et al. Partial duplication of 3q and distal deletion of 11q in a stillbirth with an omphalocele containing the liver, short limbs, and intrauterine growth retardation. J Med Genet 1996: 33 (7): 615-617.
    • (1996) J. Med. Genet. , vol.33 , Issue.7 , pp. 615-617
    • Chen, C.P.1    Liu, F.F.2    Jan, S.W.3
  • 14
    • 0030823198 scopus 로고    scopus 로고
    • Recurrent omphalocele with partial trisomy 3q and partial monosomy 11q
    • Chen CP, Lee CC, Chuang CY et al. Recurrent omphalocele with partial trisomy 3q and partial monosomy 11q. Clin Genet 1997: 52 (3): 196-198.
    • (1997) Clin. Genet. , vol.52 , Issue.3 , pp. 196-198
    • Chen, C.P.1    Lee, C.C.2    Chuang, C.Y.3
  • 15
    • 0032972382 scopus 로고    scopus 로고
    • Inconsistency of omphalocoele contents in three consecutive siblings with partial trisomy 3q and partial monosomy 11q
    • Chen CP. Inconsistency of omphalocoele contents in three consecutive siblings with partial trisomy 3q and partial monosomy 11q. Prenat Diagn 1999: 19 (6): 591.
    • (1999) Prenat. Diagn. , vol.19 , Issue.6 , pp. 591
    • Chen, C.P.1
  • 16
    • 0034010976 scopus 로고    scopus 로고
    • De novo partial duplication of 3q and distal deletion of 20p in a 15-week abortus with omphalocele
    • Cinti R, Botta G, Asnaghi V et al. De novo partial duplication of 3q and distal deletion of 20p in a 15-week abortus with omphalocele. Fetal Diagn Ther 2000: 15 (1): 61-62.
    • (2000) Fetal Diagn. Ther. , vol.15 , Issue.1 , pp. 61-62
    • Cinti, R.1    Botta, G.2    Asnaghi, V.3
  • 17
    • 0035662735 scopus 로고    scopus 로고
    • Risk factors in congenital abdominal wall defects (omphalocele and gastroschisi): A study in a series of 265 858 consecutive births
    • Stoll C, Alembik Y, Dott B, Roth MP. Risk factors in congenital abdominal wall defects (omphalocele and gastroschisi): a study in a series of 265 858 consecutive births. Ann Génét 2001: 44 (4): 201-208.
    • (2001) Ann. Génét. , vol.44 , Issue.4 , pp. 201-208
    • Stoll, C.1    Alembik, Y.2    Dott, B.3    Roth, M.P.4
  • 18
    • 0034784108 scopus 로고    scopus 로고
    • Evaluation of prenatal ultrasound diagnosis of fetal abdominal wall defects by 19 European registries
    • Barisic I, Clementi M, Häiusler M et al. Evaluation of prenatal ultrasound diagnosis of fetal abdominal wall defects by 19 European registries. Ultrasound Obstet Gynecol 2001: 18 (4): 309-316.
    • (2001) Ultrasound Obstet. Gynecol. , vol.18 , Issue.4 , pp. 309-316
    • Barisic, I.1    Clementi, M.2    Häiusler, M.3
  • 20
    • 0025983164 scopus 로고
    • Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41)
    • Rotmensch S, Liberati M, Luo JS et al. Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41). Prenat Diagn 1991: 11 (11): 867-873.
    • (1991) Prenat. Diagn. , vol.11 , Issue.11 , pp. 867-873
    • Rotmensch, S.1    Liberati, M.2    Luo, J.S.3
  • 21
    • 0025941775 scopus 로고
    • De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints
    • Warburton D. De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 1991: 49: 995-1013.
    • (1991) Am. J. Hum. Genet. , vol.49 , pp. 995-1013
    • Warburton, D.1
  • 22
    • 0029796035 scopus 로고    scopus 로고
    • Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen
    • Schuffenhauer S, Kobelt A, Daumer-Haas C et al. Interstitial deletion 5p accompanied by dicentric ring formation of the deleted segment resulting in trisomy 5p13-cen. Am J Med Genet 1996: 65 (1): 56-59.
    • (1996) Am. J. Med. Genet. , vol.65 , Issue.1 , pp. 56-59
    • Schuffenhauer, S.1    Kobelt, A.2    Daumer-Haas, C.3
  • 23
    • 0019472306 scopus 로고
    • Partial trisomy 6q, due to balanced maternal translocation (6;22)(q21;p13) or (q21;pter)
    • Stamberg J, Shapiro J, Valle D et al. Partial trisomy 6q, due to balanced maternal translocation (6;22)(q21;p13) or (q21;pter). Clin Genet 1981: 19 (2): 122-125.
    • (1981) Clin. Genet. , vol.19 , Issue.2 , pp. 122-125
    • Stamberg, J.1    Shapiro, J.2    Valle, D.3
  • 24
    • 0023128535 scopus 로고
    • Prenatal diagnosis and management of congenital defects of the anterior abdominal wall
    • Sermer M, Benzie RJ, Pitson L et al. Prenatal diagnosis and management of congenital defects of the anterior abdominal wall. Am J Obstet Gynecol 1987: 156 (2): 308-312.
    • (1987) Am. J. Obstet. Gynecol. , vol.156 , Issue.2 , pp. 308-312
    • Sermer, M.1    Benzie, R.J.2    Pitson, L.3
  • 25
    • 0027331380 scopus 로고
    • Miller-Dieker syndrome. Detection of a cryptic chromosome translocation using in situ hybridization in a family with multiple affected offspring
    • Alvarado M, Bass HN, Caldwell S et al. Miller-Dieker syndrome. Detection of a cryptic chromosome translocation using in situ hybridization in a family with multiple affected offspring. Am J Dis Child 1993: 147 (12): 1291-1294.
    • (1993) Am. J. Dis. Child , vol.147 , Issue.12 , pp. 1291-1294
    • Alvarado, M.1    Bass, H.N.2    Caldwell, S.3
  • 26
    • 0030949434 scopus 로고    scopus 로고
    • Omphalocele in Miller-Dieker syndrome: Expanding the phenotype
    • Chitayat D, Toi A, Babul R et al. Omphalocele in Miller-Dieker syndrome: expanding the phenotype. Am J Med Genet 1997: 69 (3): 293-298.
    • (1997) Am. J. Med. Genet. , vol.69 , Issue.3 , pp. 293-298
    • Chitayat, D.1    Toi, A.2    Babul, R.3
  • 27
    • 0018605890 scopus 로고
    • Partial trisomy of chromosome 3 (3q12→qter) owing to 3q/18p translocation. A trisomy 3q syndrome
    • Salazar D, Rosenfeld W, Verma RS et al. Partial trisomy of chromosome 3 (3q12→qter) owing to 3q/18p translocation. A trisomy 3q syndrome. Am J Dis Child 1979: 133 (10): 1006-1008.
    • (1979) Am. J. Dis. Child , vol.133 , Issue.10 , pp. 1006-1008
    • Salazar, D.1    Rosenfeld, W.2    Verma, R.S.3
  • 28
    • 0019863993 scopus 로고
    • Duplication 3q: Severe manifestations in an infant with duplication of a short segment of 3q
    • Rosenfeld W, Verma RS, Jhaveri RC et al. Duplication 3q: Severe manifestations in an infant with duplication of a short segment of 3q. Am J Med Genet 1981: 10 (2): 187-192.
    • (1981) Am. J. Med. Genet. , vol.10 , Issue.2 , pp. 187-192
    • Rosenfeld, W.1    Verma, R.S.2    Jhaveri, R.C.3
  • 29
    • 0018411538 scopus 로고
    • New chromo somal dysmorphic syndromes. 3. Partial trisomy 3q
    • Stengel-Rutkowski S, Murken JD, Pilar V et al. New chromo somal dysmorphic syndromes. 3. Partial trisomy 3q. Eur J Pediatr 1979: 130 (2): 111-125.
    • (1979) Eur. J. Pediatr. , vol.130 , Issue.2 , pp. 111-125
    • Stengel-Rutkowski, S.1    Murken, J.D.2    Pilar, V.3
  • 30
    • 0019165940 scopus 로고
    • Partial 3q trisomy due to an unbalanced 3/10 translocation
    • Blumberg B, Moore R, Mohandas T. Partial 3q trisomy due to an unbalanced 3/10 translocation. Am J Med Genet 1980: 7 (3): 335-339.
    • (1980) Am. J. Med. Genet. , vol.7 , Issue.3 , pp. 335-339
    • Blumberg, B.1    Moore, R.2    Mohandas, T.3
  • 31
    • 0012614871 scopus 로고
    • Anuesomies de recombinaison. Conséquences d'une inversion pericentrique d'un chromosome 3 paternal
    • Boué J, Hirschhorn K, Lucas M et al. Anuesomies de recombinaison. Conséquences d'une inversion pericentrique d'un chromosome 3 paternal. Ann Paediatr 1974: 21: 567-573.
    • (1974) Ann. Paediatr. , vol.21 , pp. 567-573
    • Boué, J.1    Hirschhorn, K.2    Lucas, M.3
  • 32
    • 0017043985 scopus 로고
    • A case of partial trisomy 3q
    • Chiyo H, Kuroki Y, Matsui I et al. A case of partial trisomy 3q. J Med Genet 1976: 13 (6): 525-528.
    • (1976) J. Med. Genet. , vol.13 , Issue.6 , pp. 525-528
    • Chiyo, H.1    Kuroki, Y.2    Matsui, I.3
  • 33
    • 0018382839 scopus 로고
    • Familial partial trisomy of the long arm of chromosome 3 (3q)
    • Fear C, Briggs A. Familial partial trisomy of the long arm of chromosome 3 (3q). Arch Dis Child 1979: 54 (2): 135-138.
    • (1979) Arch. Dis. Child. , vol.54 , Issue.2 , pp. 135-138
    • Fear, C.1    Briggs, A.2
  • 34
    • 0017874086 scopus 로고
    • Partial trisomy for the long arm of chromosome 3 [3(q21→qter)+] in a newborn with minor physical stigmata
    • Fryns JP, van Eygen M, Logghe N, Van den Berghe H. Partial trisomy for the long arm of chromosome 3 [3(q21→qter)+] in a newborn with minor physical stigmata. Hum Genet 1978: 40 (1): 333-339.
    • (1978) Hum. Genet. , vol.40 , Issue.1 , pp. 333-339
    • Fryns, J.P.1    van Eygen, M.2    Logghe, N.3    Van den Berghe, H.4
  • 35
    • 0018392322 scopus 로고
    • A case of trisomy 3q21→qter syndrome
    • Kondo I, Hirano T, Hamaguchi H et al. A case of trisomy 3q21→qter syndrome. Hum Genet 1979: 46 (2): 141-147.
    • (1979) Hum. Genet. , vol.46 , Issue.2 , pp. 141-147
    • Kondo, I.1    Hirano, T.2    Hamaguchi, H.3
  • 36
    • 0018190844 scopus 로고
    • Familial transmission of a 3q;22p translocation, with partial trisomy of chromosome 3 in the propositus
    • Sod R, Giorgiutti E, Matayoshi T et al. Familial transmission of a 3q;22p translocation, with partial trisomy of chromosome 3 in the propositus. J Génét Hum 1978: 26 (2): 173-176.
    • (1978) J. Génét. Hum. , vol.26 , Issue.2 , pp. 173-176
    • Sod, R.1    Giorgiutti, E.2    Matayoshi, T.3
  • 38
    • 0019497404 scopus 로고
    • Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1→q24 in different offspring
    • Williamson RA, Donlan MA, Dolan CR et al. Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1→q24 in different offspring. Am J Med Genet 1981: 9 (2): 105-111.
    • (1981) Am. J. Med. Genet. , vol.9 , Issue.2 , pp. 105-111
    • Williamson, R.A.1    Donlan, M.A.2    Dolan, C.R.3
  • 39
    • 0035142060 scopus 로고    scopus 로고
    • Prenatal diagnosis of partial trisomy 3q(3q22→qter) and monosomy 6q(6q25.3→qter) in a fetus with sonographic findings of cystic hygromata colli and unilateral pleural effusion
    • Chen CP. Prenatal diagnosis of partial trisomy 3q(3q22→qter) and monosomy 6q(6q25.3→qter) in a fetus with sonographic findings of cystic hygromata colli and unilateral pleural effusion. Prenat Diagn 2001: 21 (1): 73.
    • (2001) Prenat. Diagn. , vol.21 , Issue.1 , pp. 73
    • Chen, C.P.1
  • 40
    • 0018563277 scopus 로고
    • Trisomy in the distal end of the long arm of chromosome 3. A condition clinically similar to the Cornelia de Lange syndrome
    • Sciorra LJ, Baling K, Lee ML. Trisomy in the distal end of the long arm of chromosome 3. A condition clinically similar to the Cornelia de Lange syndrome. Am J Dis Child 1979: 133 (7): 727-730.
    • (1979) Am. J. Dis. Child. , vol.133 , Issue.7 , pp. 727-730
    • Sciorra, L.J.1    Baling, K.2    Lee, M.L.3
  • 41
    • 0017514660 scopus 로고
    • Partial trisomy 3q in a newborn female
    • De Marchi M, Zuffardi O, Carozzi F et al. Partial trisomy 3q in a newborn female. Ric Clin Lab 1977: 7 (3): 225-232.
    • (1977) Ric. Clin. Lab. , vol.7 , Issue.3 , pp. 225-232
    • De Marchi, M.1    Zuffardi, O.2    Carozzi, F.3
  • 42
    • 0023796677 scopus 로고
    • Trisomy 3q2 and Pierre-Robin sequence in a boy with unbalanced 46,XY,der(10), t(3;10)(q23;q26.3) de novo karyotype
    • Kleczkowska A, Fryns JP, Moerman F et al. Trisomy 3q2 and Pierre-Robin sequence in a boy with unbalanced 46,XY,der(10), t(3;10)(q23;q26.3) de novo karyotype. Helv Paediatr Acta 1988: 43 (3): 245-248.
    • (1988) Helv. Paediatr. Acta , vol.43 , Issue.3 , pp. 245-248
    • Kleczkowska, A.1    Fryns, J.P.2    Moerman, F.3
  • 43
    • 0027428321 scopus 로고
    • Partial duplication of 3q(q25.1→q26.1) without the Brachmann-de Lange phenotype
    • Lopez-Rangel E, Dill FJ, Hrynchak MA, Van Allen MI. Partial duplication of 3q(q25.1→q26.1) without the Brachmann-de Lange phenotype. Am J Med Genet 1993: 47 (7): 1068-1071.
    • (1993) Am. J. Med. Genet. , vol.47 , Issue.7 , pp. 1068-1071
    • Lopez-Rangel, E.1    Dill, F.J.2    Hrynchak, M.A.3    Van Allen, M.I.4
  • 44
    • 0028158546 scopus 로고
    • Partial trisomy 3q causing mild Cornelia de Lange phenotype
    • Holder SE, Grimsley LM, Palmer RW et al. Partial trisomy 3q causing mild Cornelia de Lange phenotype. J Med Genet 1994: 31 (2): 150-152.
    • (1994) J. Med. Genet. , vol.31 , Issue.2 , pp. 150-152
    • Holder, S.E.1    Grimsley, L.M.2    Palmer, R.W.3
  • 45
    • 0025783357 scopus 로고
    • Partial 3q duplication syndrome and assignment of D3S5 to 3q25-3q28
    • van Essen AJ, Kok K, van den Berg A et al. Partial 3q duplication syndrome and assignment of D3S5 to 3q25-3q28. Hum Genet 1991: 87 (2): 151-154.
    • (1991) Hum. Genet. , vol.87 , Issue.2 , pp. 151-154
    • van Essen, A.J.1    Kok, K.2    van den Berg, A.3
  • 46
    • 0021367555 scopus 로고
    • Partial trisomy 3q (3q25→qter) syndrome in two siblings
    • Annerén G, Gustavson KH. Partial trisomy 3q (3q25→qter) syndrome in two siblings. Acta Paediatr Scand 1984: 73 (2): 281-284.
    • (1984) Acta Paediatr. Scand. , vol.73 , Issue.2 , pp. 281-284
    • Annerén, G.1    Gustavson, K.H.2
  • 47
    • 0023267849 scopus 로고
    • Familial trisomy 3q25→qter. Report of two cases
    • Garcia-Esquivel L, Rivas F, Rivera H et al. Familial trisomy 3q25→qter. Report of two cases. J Génét Hum 1987: 35 (4): 299-303.
    • (1987) J. Génét. Hum. , vol.35 , Issue.4 , pp. 299-303
    • Garcia-Esquivel, L.1    Rivas, F.2    Rivera, H.3
  • 48
    • 0023835150 scopus 로고
    • A new case of partial trisomy 3(q25→qter) in a newborn
    • Montero MR, Martinez A, Fayos JL, Alvarez V. A new case of partial trisomy 3(q25→qter) in a newborn. Ann Génét 1988: 31 (1): 65-68.
    • (1988) Ann. Génét. , vol.31 , Issue.1 , pp. 65-68
    • Montero, M.R.1    Martinez, A.2    Fayos, J.L.3    Alvarez, V.4
  • 49
    • 0022527441 scopus 로고
    • Diagnosis of chromosome 3 duplication q23→qter, deletion p25→pter in a patient with the C (trigonocephaly) syndrome
    • Preus M, Vekemans M, Kaplan P. Diagnosis of chromosome 3 duplication q23→qter, deletion p25→pter in a patient with the C (trigonocephaly) syndrome. Am J Med Genet 1986: 23 (4): 935-943.
    • (1986) Am. J. Med. Genet. , vol.23 , Issue.4 , pp. 935-943
    • Preus, M.1    Vekemans, M.2    Kaplan, P.3
  • 51
    • 0030929531 scopus 로고    scopus 로고
    • A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q
    • Cai T, Tagle DA, Xia X et al. A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q. J Med Genet 1997: 34 (9): 772-776.
    • (1997) J. Med. Genet. , vol.34 , Issue.9 , pp. 772-776
    • Cai, T.1    Tagle, D.A.2    Xia, X.3
  • 53
    • 18444408083 scopus 로고    scopus 로고
    • Unbalanced translocation (3;5)(q26.1;p14): A clinical report
    • Rossi M, Di Micco P, Perone L et al. Unbalanced translocation (3;5)(q26.1;p14): a clinical report. Am J Med Genet 2002: 110 (4): 353-358.
    • (2002) Am. J. Med. Genet. , vol.110 , Issue.4 , pp. 353-358
    • Rossi, M.1    Di Micco, P.2    Perone, L.3
  • 54
    • 0023274449 scopus 로고
    • Partial trisomy 3q syndrome inherited from familial t(3;9)(q26.1;p23)
    • Tranebjaerg L, Baekmark UB, Dyhr-Nielsen M, Kreiborg S. Partial trisomy 3q syndrome inherited from familial t(3;9)(q26.1;p23). Clin Genet 1987: 32 (2): 137-143.
    • (1987) Clin. Genet. , vol.32 , Issue.2 , pp. 137-143
    • Tranebjaerg, L.1    Baekmark, U.B.2    Dyhr-Nielsen, M.3    Kreiborg, S.4
  • 55
    • 0028328760 scopus 로고
    • Anterior polar cataract in two sisters with an unbalanced 3; 18 chromosomal translocation
    • Rubin SE, Nelson LB, Pletcher BA. Anterior polar cataract in two sisters with an unbalanced 3; 18 chromosomal translocation. Am J Ophthalmol 1994: 117 (4): 512-515.
    • (1994) Am. J. Ophthalmol. , vol.117 , Issue.4 , pp. 512-515
    • Rubin, S.E.1    Nelson, L.B.2    Pletcher, B.A.3
  • 56
    • 0032842533 scopus 로고    scopus 로고
    • Probing the human genome in search for a new 3q syndrome
    • Azar GM, Conte RA, Kleyman SM et al. Probing the human genome in search for a new 3q syndrome. Ann Génét 1999: 42 (2): 95-100.
    • (1999) Ann. Génét. , vol.42 , Issue.2 , pp. 95-100
    • Azar, G.M.1    Conte, R.A.2    Kleyman, S.M.3
  • 57
    • 0036821484 scopus 로고    scopus 로고
    • A new case of dup(3q) syndrome due to a pure duplication of 3qter
    • Faas BH, De Vries BB, Van Es-Van Gaal J et al. A new case of dup(3q) syndrome due to a pure duplication of 3qter. Clin Genet 2002: 62 (4): 315-320.
    • (2002) Clin. Genet. , vol.62 , Issue.4 , pp. 315-320
    • Faas, B.H.1    De Vries, B.B.2    Van Es-Van Gaal, J.3
  • 58
    • 17044451980 scopus 로고    scopus 로고
    • Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals
    • Granzow M, Popp S, Keller M et al. Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals. Hum Genet 2000: 107 (1): 51-57.
    • (2000) Hum. Genet. , vol.107 , Issue.1 , pp. 51-57
    • Granzow, M.1    Popp, S.2    Keller, M.3
  • 59
    • 0033909534 scopus 로고    scopus 로고
    • Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3)
    • Holinski-Feder E, Reyniers E, Uhrig S et al. Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3). Am J Hum Genet 2000: 66 (1): 16-25.
    • (2000) Am. J. Hum. Genet. , vol.66 , Issue.1 , pp. 16-25
    • Holinski-Feder, E.1    Reyniers, E.2    Uhrig, S.3
  • 60
    • 0026299696 scopus 로고
    • Short clinical report: A new case with de novo partial 9p monosomy
    • Nagy E, Bod M, Nemeth I, Timar L. Short clinical report: a new case with de novo partial 9p monosomy. Acta Paediatr Hung 1991: 31 (4): 407-413.
    • (1991) Acta Paediatr. Hung. , vol.31 , Issue.4 , pp. 407-413
    • Nagy, E.1    Bod, M.2    Nemeth, I.3    Timar, L.4
  • 61
    • 0034834649 scopus 로고    scopus 로고
    • Prenatal ultrasound findings in a fetus with paternal uniparental disomy 14q12-qter
    • Towner D, Yang SP, Shaffer LG. Prenatal ultrasound findings in a fetus with paternal uniparental disomy 14q12-qter. Ultrasound Obstet Gynecol 2001: 18 (3): 268-271.
    • (2001) Ultrasound Obstet. Gynecol. , vol.18 , Issue.3 , pp. 268-271
    • Towner, D.1    Yang, S.P.2    Shaffer, L.G.3
  • 62
    • 0023130925 scopus 로고
    • Duplication of distal 15q: Report of five new cases from two different translocation kindreds
    • Lacro RV, Jones KL, Mascarello JT et al. Duplication of distal 15q: report of five new cases from two different translocation kindreds. Am J Med Genet 1987: 26 (3): 719-728.
    • (1987) Am. J. Med. Genet. , vol.26 , Issue.3 , pp. 719-728
    • Lacro, R.V.1    Jones, K.L.2    Mascarello, J.T.3
  • 63
    • 0033991601 scopus 로고    scopus 로고
    • A new inherited interstitial deletion of the distal long arm of chromosome 4
    • Aladhami SM, Gould CP, Muhammad FA. A new inherited interstitial deletion of the distal long arm of chromosome 4. Hum Hered 2000: 50 (2): 146-150.
    • (2000) Hum. Hered. , vol.50 , Issue.2 , pp. 146-150
    • Aladhami, S.M.1    Gould, C.P.2    Muhammad, F.A.3
  • 64
    • 0027160691 scopus 로고
    • Genetic syndromes and uniparental disomy: A study of 16 cases of Brachmann-de Lange syndrome
    • Shaffer LG, Overhauser J, Jackson LG, Ledbetter DH. Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome. Am J Med Genet 1993: 47 (3): 383-386.
    • (1993) Am. J. Med. Genet. , vol.47 , Issue.3 , pp. 383-386
    • Shaffer, L.G.1    Overhauser, J.2    Jackson, L.G.3    Ledbetter, D.H.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.