메뉴 건너뛰기




Volumn 7, Issue 2, 1996, Pages 135-142

Partial trisomy and partial monosomy of the distal long arm of chromosome 4: Patient report and literature review

Author keywords

Diaphragmatic hernia; Heart defect; Inverted duplication; Partial trisomy monosomy 4q; Terminal deletion

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 4; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DIAPHRAGM HERNIA; GENE DELETION; HUMAN; MALE; NEWBORN; PARTIAL MONOSOMY; PARTIAL TRISOMY; PHENOTYPE; POLYDACTYLY;

EID: 0029898179     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (6)

References (55)
  • 1
    • 0018290944 scopus 로고
    • Partial trisomy 4q in two unrelated Cases
    • ANDRLE M., ERLACH A. and RETT A.: Partial trisomy 4q in two unrelated Cases. Hum. Genet., 1979, 49, 179-183.
    • (1979) Hum. Genet. , vol.49 , pp. 179-183
    • Andrle, M.1    Erlach, A.2    Rett, A.3
  • 4
    • 0017721380 scopus 로고
    • Deletion of the long arm of chromosome 4 [46,XX,del(4)(q31)] in a patient with congenital anomalies
    • BACK E., HERTEL C., VOGEL W., BETTECKEN F. and THIESEN M : Deletion of the long arm of chromosome 4 [46,XX,del(4)(q31)] in a patient with congenital anomalies. Ann. Génét., 1977, 20, 294-296.
    • (1977) Ann. Génét. , vol.20 , pp. 294-296
    • Back, E.1    Hertel, C.2    Vogel, W.3    Bettecken, F.4    Thiesen, M.5
  • 5
    • 0020820778 scopus 로고
    • Chromosome 4q deletion syndrome: A case report
    • BERGER A., DAR H., REITER A. and TAL Y.: Chromosome 4q deletion syndrome: a case report. Isr. J. Med. Sci., 1983, 19, 850-852.
    • (1983) Isr. J. Med. Sci. , vol.19 , pp. 850-852
    • Berger, A.1    Dar, H.2    Reiter, A.3    Tal, Y.4
  • 6
    • 0025065371 scopus 로고
    • Translokations-trisomie 4q bei zwei Geschwistern als Folge einer vaterlichen balancierten reziproken Translokation: T(1;4)(q44;q31)
    • BODE H., BUHLER E.M., WYLER F., and HADZILSELIMOVIC F.: Translokations-trisomie 4q bei zwei Geschwistern als Folge einer vaterlichen balancierten reziproken Translokation: t(1;4)(q44;q31). Monatsschr. Kinderheilkd , 1990, 138, 763-766.
    • (1990) Monatsschr. Kinderheilkd , vol.138 , pp. 763-766
    • Bode, H.1    Buhler, E.M.2    Wyler, F.3    Hadzilselimovic, F.4
  • 7
    • 0019164778 scopus 로고
    • La trisomia parziale del braccio lungo del cromosoma 4: Una «nuova» sindrome
    • Nov. 15
    • BONIOLI E., CORDONE G., DELLACASA C., IESTER A., VIANELLO M.G. and GEMME G.: La trisomia parziale del braccio lungo del cromosoma 4: una «nuova» sindrome. Minerva Pediatr., 1980 Nov. 15, 32, 1241-1248.
    • (1980) Minerva Pediatr. , vol.32 , pp. 1241-1248
    • Bonioli, E.1    Cordone, G.2    Dellacasa, C.3    Iester, A.4    Vianello, M.G.5    Gemme, G.6
  • 8
    • 0017157442 scopus 로고
    • Partial trisomy 4q syndrome: Case report and review
    • CERVENKA J., DJAVADI G.R. and GORLIN R.J.: Partial trisomy 4q syndrome: Case report and review. Hum. Genet., 1976, 34, 1-7.
    • (1976) Hum. Genet. , vol.34 , pp. 1-7
    • Cervenka, J.1    Djavadi, G.R.2    Gorlin, R.J.3
  • 10
    • 0019520088 scopus 로고
    • Brief clinical report: The del(4)(q31) syndrome: a recognizable disorder with atypical Robin malformation sequence
    • DAVIS J.M., CLARREN S.K. and SALK D.J.: Brief clinical report: The del(4)(q31) syndrome: a recognizable disorder with atypical Robin malformation sequence. Am. J. Med. Genet., 1981, 9, 113-117.
    • (1981) Am. J. Med. Genet. , vol.9 , pp. 113-117
    • Davis, J.M.1    Clarren, S.K.2    Salk, D.J.3
  • 13
    • 0019522520 scopus 로고
    • High-resolution R- and G-banding in the same preparation
    • DUTRILLAUX B. and VIEGAS-PEQUIGNOT E.: High-resolution R- and G-banding in the same preparation. Hum. Genet., 1981, 57, 93-95.
    • (1981) Hum. Genet. , vol.57 , pp. 93-95
    • Dutrillaux, B.1    Viegas-Pequignot, E.2
  • 15
    • 0024331450 scopus 로고
    • Del(4)(q33→qter): Another case report of a child with mild dysmorphism
    • FAGAN K.A. and MORRIS R.B.: Del(4)(q33→qter): another case report of a child with mild dysmorphism. J. Med. Genet., 1989, 26, 776-784.
    • (1989) J. Med. Genet. , vol.26 , pp. 776-784
    • Fagan, K.A.1    Morris, R.B.2
  • 16
    • 0016198877 scopus 로고
    • A propos d'un cas de délétion du bras long du chromosome B4 (B4q-)
    • FERRIER S. and FREUND M.: A propos d'un cas de délétion du bras long du chromosome B4 (B4q-). Archiv für Genetik, 1974, 47, 16-26.
    • (1974) Archiv für Genetik , vol.47 , pp. 16-26
    • Ferrier, S.1    Freund, M.2
  • 17
    • 0016281353 scopus 로고
    • Partial trisomy 4q and partial monosomy 18q as a consequence of a paternal balanced translocation t(4q-;18q+)
    • FONATSCH C. and FLATZ S.D.: Partial trisomy 4q and partial monosomy 18q as a consequence of a paternal balanced translocation t(4q-;18q+). Humangenetik, 1974, 25, 227-233.
    • (1974) Humangenetik , vol.25 , pp. 227-233
    • Fonatsch, C.1    Flatz, S.D.2
  • 18
    • 0018145773 scopus 로고
    • Deletion of the long arm of chromosome 4: A clinically identifiable syndrome?
    • FRIAS J.L., NELSON R.M. and RAY S.L.: Deletion of the long arm of chromosome 4: a clinically identifiable syndrome? Birth Defects: Original Article Series, 1978, XIV (6C), 355-358.
    • (1978) Birth Defects: Original Article Series , vol.14 , Issue.6 C , pp. 355-358
    • Frias, J.L.1    Nelson, R.M.2    Ray, S.L.3
  • 19
    • 0018879212 scopus 로고
    • Partial duplication of the long arm of chromosome 4
    • FRYNS J.P. and VAN DEN BERGHE H.: Partial duplication of the long arm of chromosome 4. Ann. Génét., 1980, 23, 52-53.
    • (1980) Ann. Génét. , vol.23 , pp. 52-53
    • Fryns, J.P.1    Van Den Berghe, H.2
  • 21
    • 0015597285 scopus 로고
    • Deletion from the long arm of chromosome 4(46,XX,4q-) associated with congenital anomalies
    • GOLBUS M.S., CONTE F.A. and DAENTL D.L.: Deletion from the long arm of chromosome 4(46,XX,4q-) associated with congenital anomalies. J. Med. Genet., 1972, 10, 83-85.
    • (1972) J. Med. Genet. , vol.10 , pp. 83-85
    • Golbus, M.S.1    Conte, F.A.2    Daentl, D.L.3
  • 23
    • 0026317810 scopus 로고
    • Interstitial tandem direct duplication of the long arm of chromosome 4 (q23-q27) and possible assignment of the structural gene encoding human Aspartylglucosaminidase to this segment
    • HALAL F., VEKEMANS M. and CHITAYAT D.: Interstitial tandem direct duplication of the long arm of chromosome 4 (q23-q27) and possible assignment of the structural gene encoding human Aspartylglucosaminidase to this segment. Am. J. Med. Genet., 1991, 39, 418-421.
    • (1991) Am. J. Med. Genet. , vol.39 , pp. 418-421
    • Halal, F.1    Vekemans, M.2    Chitayat, D.3
  • 24
    • 0027358733 scopus 로고
    • Deletion of the terminal segment of the long arm of chromosome 4 with aortic stenosis
    • HO N.K, and NG I.S.L.: Deletion of the terminal segment of the long arm of chromosome 4 with aortic stenosis. J. Peadiatr. Child Health, 1993, 29, 473-475.
    • (1993) J. Peadiatr. Child Health , vol.29 , pp. 473-475
    • Ho, N.K.1    Ng, I.S.L.2
  • 25
    • 0017185322 scopus 로고
    • Multiple congenital defects associated with trisomy for the long arm of No 4
    • ISSA M., POTTER A.M. and BLANK C.E.: Multiple congenital defects associated with trisomy for the long arm of No 4. J. Med, Genet., 1976, 13, 326-329.
    • (1976) J. Med, Genet. , vol.13 , pp. 326-329
    • Issa, M.1    Potter, A.M.2    Blank, C.E.3
  • 26
    • 0022901522 scopus 로고
    • A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome
    • JEFFERSON R.D., BURN J., GAUNT K.L., HUNTER S. and DAVISON E.V.: A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome. J. Med. Genet., 1986, 25, 474-480.
    • (1986) J. Med. Genet. , vol.25 , pp. 474-480
    • Jefferson, R.D.1    Burn, J.2    Gaunt, K.L.3    Hunter, S.4    Davison, E.V.5
  • 28
    • 0016707084 scopus 로고
    • A patient with congenital anomalies and a deletion of the long arm of chromosome 4 [46,XY,del(4)(q31)]
    • van KEMPEN C.: A patient with congenital anomalies and a deletion of the long arm of chromosome 4 [46,XY,del(4)(q31)]. J. Med. Genet., 1975, 12, 204-212.
    • (1975) J. Med. Genet. , vol.12 , pp. 204-212
    • Van Kempen, C.1
  • 30
    • 0025111743 scopus 로고
    • Part I: Fetal dysmorphology. Congenital heart defects in malformation syndromes
    • LIN A.E.: Part I: Fetal dysmorphology. Congenital heart defects in malformation syndromes. Clinics in Perinatology. 1990, 17, 641-673.
    • (1990) Clinics in Perinatology , vol.17 , pp. 641-673
    • Lin, A.E.1
  • 31
    • 0020027071 scopus 로고
    • Partial deletion of the long arm of chromosome 4: A clinical syndrome
    • LIPSON A., COLLIS J. and GREEN C.: Partial deletion of the long arm of chromosome 4: a clinical syndrome. J. Med. Genet., 1982, 19, 155-157.
    • (1982) J. Med. Genet. , vol.19 , pp. 155-157
    • Lipson, A.1    Collis, J.2    Green, C.3
  • 32
    • 0017761559 scopus 로고
    • Cri-du-chat syndrome in a child with a 46,XX,der(5),t(4,5)(q32;p14)pat karyotype
    • McDERMOTT A., POULDING R. and CREERY D.: Cri-du-chat syndrome in a child with a 46,XX,der(5),t(4,5)(q32;p14)pat karyotype. Hum. Genet., 1977, 39, 109-112.
    • (1977) Hum. Genet. , vol.39 , pp. 109-112
    • McDermott, A.1    Poulding, R.2    Creery, D.3
  • 33
    • 0026470848 scopus 로고
    • Brief clinical report. Robin Sequence and a deficiency of the left forearm in a girl with a deletion of chromosome 4q33-qter
    • MENKO F.H., MADAN K., BAART J.A. and BEUKENHORST H.L.: Brief clinical report. Robin Sequence and a deficiency of the left forearm in a girl with a deletion of chromosome 4q33-qter. Am. J. Med. Genet., 1992, 44, 696-698.
    • (1992) Am. J. Med. Genet. , vol.44 , pp. 696-698
    • Menko, F.H.1    Madan, K.2    Baart, J.A.3    Beukenhorst, H.L.4
  • 34
    • 0024370425 scopus 로고
    • Brief clinical report. Terminal deletion 4q in a severely retarded boy
    • de MICHELENA M.I. and CAMPOS P.J.: Brief clinical report. Terminal deletion 4q in a severely retarded boy. Am. J. Med. Genet., 1989, 33, 228-230.
    • (1989) Am. J. Med. Genet. , vol.33 , pp. 228-230
    • De Michelena, M.I.1    Campos, P.J.2
  • 36
    • 0014114767 scopus 로고
    • A large deletion of the long arm of chromosome No 4 in a child with limb abnormalities
    • OCKEY C.H., FELDMAN G.V., MACAULAY M.E. and DELANEY M.J.: A large deletion of the long arm of chromosome No 4 in a child with limb abnormalities. Arch. Dis. Childh., 1967, 42, 428-434.
    • (1967) Arch. Dis. Childh. , vol.42 , pp. 428-434
    • Ockey, C.H.1    Feldman, G.V.2    Macaulay, M.E.3    Delaney, M.J.4
  • 37
    • 0026337507 scopus 로고
    • The fetal phenotype of partial trisomy of the long arm of chromosome 4
    • PETIT P., MOERMAN Ph. and FRYNS J.P.: The fetal phenotype of partial trisomy of the long arm of chromosome 4. Genet Counsel., 1991, 2, 163-165.
    • (1991) Genet Counsel. , vol.2 , pp. 163-165
    • Petit, P.1    Moerman, Ph.2    Fryns, J.P.3
  • 39
    • 0027056330 scopus 로고
    • Translocation/duplication of 9p onto a duplicated 4q
    • RIVERA H., FTGUERA L.E. and VASQUEZ A.I.: Translocation/duplication of 9p onto a duplicated 4q. Genet. Counsel., 1992, 3, 201-203.
    • (1992) Genet. Counsel. , vol.3 , pp. 201-203
    • Rivera, H.1    Ftguera, L.E.2    Vasquez, A.I.3
  • 40
    • 0020053503 scopus 로고
    • The partial 4q monosomy. Report of a 5-year-old boy with deletion 4q31.3→4qter
    • SANDIG K.R., MÜCKE J. and TRAUTMANN U.: The partial 4q monosomy. Report of a 5-year-old boy with deletion 4q31.3→4qter. Eur. J. Pediatr., 1982, 138, 254-257.
    • (1982) Eur. J. Pediatr. , vol.138 , pp. 254-257
    • Sandig, K.R.1    Mücke, J.2    Trautmann, U.3
  • 41
    • 0016165312 scopus 로고
    • Translocation, t(4qminus;13qplus), in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generation
    • SCHROTT H.G., SAKAGUCHI S., FRANCKE U., LUZZATTI L. and FIALKOW P.J.: Translocation, t(4qminus;13qplus), in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generation, J. Med, Genet., 1974, 11, 201-205.
    • (1974) J. Med, Genet. , vol.11 , pp. 201-205
    • Schrott, H.G.1    Sakaguchi, S.2    Francke, U.3    Luzzatti, L.4    Fialkow, P.J.5
  • 42
    • 4243320926 scopus 로고
    • Congenital anomalies associated with partial deletion of the long arms of chromosome 4 46,XY,del(4)(q31)
    • SHROFF M., ISRAËL J. and ROSENTHAL F.: Congenital anomalies associated with partial deletion of the long arms of chromosome 4 (46,XY,del(4)(q31). Am. J. Hum. Genet., 1981, 33, 369.
    • (1981) Am. J. Hum. Genet. , vol.33 , pp. 369
    • Shroff, M.1    Israël, J.2    Rosenthal, F.3
  • 43
    • 0020057712 scopus 로고
    • Terminal deletion (4)(q33) in a male infant
    • STAMBERG J., JABS E.W. and ELIAS E.: Terminal deletion (4)(q33) in a male infant. Clin. Genet., 1982, 21, 125-129.
    • (1982) Clin. Genet. , vol.21 , pp. 125-129
    • Stamberg, J.1    Jabs, E.W.2    Elias, E.3
  • 44
    • 0018726934 scopus 로고
    • Partial trisomy 4q: Two cases with a familial translocation t(4;18)(q27;q23)
    • STELLA M., BONFANTE A., RONCONI G. and ROSSI G.: Partial trisomy 4q: two cases with a familial translocation t(4;18)(q27;q23). Hum. Genet., 1979, 47, 245-251.
    • (1979) Hum. Genet. , vol.47 , pp. 245-251
    • Stella, M.1    Bonfante, A.2    Ronconi, G.3    Rossi, G.4
  • 45
    • 0018901453 scopus 로고
    • Partial 4q duplication due to inherited der (13),t(4;13)(q26;q34)mat in a girl with a deficiency of factor X
    • STOLL C. and ROTH M.P.: Partial 4q duplication due to inherited der (13),t(4;13)(q26;q34)mat in a girl with a deficiency of factor X. Hum. Genet., 1980, 53, 303-304.
    • (1980) Hum. Genet. , vol.53 , pp. 303-304
    • Stoll, C.1    Roth, M.P.2
  • 46
    • 0015392345 scopus 로고
    • Partial trisomy 4 resulting from a 4/18 reciprocal translocation
    • SURANA R.B. and CONEN P.E.: Partial trisomy 4 resulting from a 4/18 reciprocal translocation. Ann. Génét., 1972, 15, 191-194.
    • (1972) Ann. Génét. , vol.15 , pp. 191-194
    • Surana, R.B.1    Conen, P.E.2
  • 47
    • 0017714975 scopus 로고
    • Inverted tandem («mirror») duplications in human chromosomes: Inv dup 8p, 4q, 22q
    • TAYLOR K.M., FRANCKE U., BROWN M.G. GEORGE D.L. and KAUFHOLD M.: Inverted tandem («mirror») duplications in human chromosomes: inv dup 8p, 4q, 22q. Am. J. Med. Genet., 1977, 1, 3-19.
    • (1977) Am. J. Med. Genet. , vol.1 , pp. 3-19
    • Taylor, K.M.1    Francke, U.2    Brown, M.G.3    George, D.L.4    Kaufhold, M.5
  • 48
    • 0020444095 scopus 로고
    • Two children with deletion of the long arm of chromosome 4 with breakpoint at band q33
    • TOMKINS D.J., HUNTER A.G.W., UCHIDA I.A. and ROBERTS M.H.: Two children with deletion of the long arm of chromosome 4 with breakpoint at band q33. Clin. Genet., 1982, 22, 348-355.
    • (1982) Clin. Genet. , vol.22 , pp. 348-355
    • Tomkins, D.J.1    Hunter, A.G.W.2    Uchida, I.A.3    Roberts, M.H.4
  • 50
    • 0020665453 scopus 로고
    • Letter to the Editor. Deletion of chromosome 4q33→qter. Is it different from 4q31→qter deletion syndrome?
    • TUCHMANN M., EBRAHIMI J. and GORLIN R.J.: Letter to the Editor. Deletion of chromosome 4q33→qter. Is it different from 4q31→qter deletion syndrome? Am. J. Med. Genet., 1983, 14, 391-393.
    • (1983) Am. J. Med. Genet. , vol.14 , pp. 391-393
    • Tuchmann, M.1    Ebrahimi, J.2    Gorlin, R.J.3
  • 51
    • 0016856980 scopus 로고
    • Uneinheitlicher phänotyp bei Partialtrisomie 4q
    • VOGEL W., SIEBERS J.W. and GUNKEL J.: Uneinheitlicher phänotyp bei Partialtrisomie 4q. Humangenetik, 1975, 28, 103-112.
    • (1975) Humangenetik , vol.28 , pp. 103-112
    • Vogel, W.1    Siebers, J.W.2    Gunkel, J.3
  • 52
    • 0028010740 scopus 로고
    • Paternal pericentric inversion of chromosome 4 as a cause of recurrent pregnancy loss
    • WOLF G.C., MAO J. IZQUIERDO L. and JOFFE G.: Paternal pericentric inversion of chromosome 4 as a cause of recurrent pregnancy loss. J. Med. Genet., 1994, 31, 153-155.
    • (1994) J. Med. Genet. , vol.31 , pp. 153-155
    • Wolf, G.C.1    Mao, J.2    Izquierdo, L.3    Joffe, G.4
  • 53
    • 0020075872 scopus 로고
    • Brief cytogenetic case report: A 4.5-year-old girl with deletion 4q syndrome-de novo,46,XX.del(4)(pter→q31:)
    • YOUNG R.S., PALMER C.G., BENDER H.A., WEAVER D.D. and HODES M.E.: Brief cytogenetic case report: a 4.5-year-old girl with deletion 4q syndrome-de novo,46,XX.del(4)(pter→q31:). Am. J. Med. Genet., 1982, 12, 103-107.
    • (1982) Am. J. Med. Genet. , vol.12 , pp. 103-107
    • Young, R.S.1    Palmer, C.G.2    Bender, H.A.3    Weaver, D.D.4    Hodes, M.E.5
  • 54
    • 0019412870 scopus 로고
    • Terminal deletion of the long arm of chromosome 4. Report of a case of 46,XY,del(4)(q31) and review of 4q-syndrome
    • YU C.W., CHEN H., BAUCUM R.W. and HAND A.M.: Terminal deletion of the long arm of chromosome 4. Report of a case of 46,XY,del(4)(q31) and review of 4q-syndrome. Ann. Génét., 1981, 24, 158-161.
    • (1981) Ann. Génét. , vol.24 , pp. 158-161
    • Yu, C.W.1    Chen, H.2    Baucum, R.W.3    Hand, A.M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.