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Volumn 14, Issue 2, 2003, Pages 195-205

The phenotype of patients with 4q-syndrome

Author keywords

4q syndrome; Interstitial deletion; Phenotype; Review; Terminal deletion

Indexed keywords

CHILD; CHROMOSOME 4Q; CONGENITAL HEART MALFORMATION; CRANIOFACIAL DEVELOPMENT; FACE MALFORMATION; FEMALE; FINGER MALFORMATION; GENE DELETION; GROWTH RETARDATION; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MICROSCOPIC ANATOMY; MORTALITY; NERVE CELL DIFFERENTIATION; PHENOTYPE; POSTNATAL GROWTH; PRENATAL GROWTH; REVIEW; SKELETON MALFORMATION; SURVIVAL; SYNDROME DELINEATION;

EID: 0038006216     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (57)

References (84)
  • 1
    • 0033991601 scopus 로고    scopus 로고
    • A new inherited interstitial deletion of the distal long arm of chromosome 4, (del(4)(q32q33))
    • ALADHAMI S.M.S., GOULD C.P. and MUHAMMAD E.A.: A new inherited interstitial deletion of the distal long arm of chromosome 4, (del(4)(q32q33)). Hum. Hered., 2000, 50, 146-150.
    • (2000) Hum. Hered. , vol.50 , pp. 146-150
    • Aladhami, S.M.S.1    Gould, C.P.2    Muhammad, E.A.3
  • 2
    • 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 THIESSEN 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    Thiessen, M.5
  • 3
    • 0023816091 scopus 로고
    • A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4
    • BEALL M.H., FALK R.E. and YING KL.: A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4. Am. J. Med. Genet., 1988, 31, 553-557.
    • (1988) Am. J. Med. Genet. , vol.31 , pp. 553-557
    • Beall, M.H.1    Falk, R.E.2    Ying, K.L.3
  • 4
    • 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
  • 5
    • 0035500601 scopus 로고    scopus 로고
    • Downstream of Otx2, or how to get a head
    • BONCINELLI E. and MORGAN R.: Downstream of Otx2, or how to get a head. Trends Genet., 2001, 17, 633-636.
    • (2001) Trends Genet. , vol.17 , pp. 633-636
    • Boncinelli, E.1    Morgan, R.2
  • 9
    • 0030801475 scopus 로고    scopus 로고
    • Mild phenotypic manifestations of terminal deletion the long arm of chromosome 4: Clinical description of a new patient
    • CALIEBE A., WALTZ S. and JENDERNY J.: Mild phenotypic manifestations of terminal deletion the long arm of chromosome 4: clinical description of a new patient. Clin. Genet., 1997, 52, 116-119.
    • (1997) Clin. Genet. , vol.52 , pp. 116-119
    • Caliebe, A.1    Waltz, S.2    Jenderny, J.3
  • 10
    • 0022452379 scopus 로고
    • Interstitial deletion of chromosome 4q diagnosed prenatally
    • CAMPBELL J.M., WILLIAMS J. and BATCUP G.: Interstitial deletion of chromosome 4q diagnosed prenatally. J. Med. Genet., 1986, 23, 366-368.
    • (1986) J. Med. Genet. , vol.23 , pp. 366-368
    • Campbell, J.M.1    Williams, J.2    Batcup, G.3
  • 11
    • 0029064521 scopus 로고
    • Duane's retraction syndrome associated with chromosome 4q27-31 segment deletion
    • CHEW C.K.S., FOSTER P., HURST J.A. and SALMON J.F.: Duane's retraction syndrome associated with chromosome 4q27-31 segment deletion. Am. J. Ophthalmol., 1995, 119, 807-809.
    • (1995) Am. J. Ophthalmol. , vol.119 , pp. 807-809
    • Chew, C.K.S.1    Foster, P.2    Hurst, J.A.3    Salmon, J.F.4
  • 12
    • 0020055552 scopus 로고
    • Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause
    • COCO R. and PENCHASZADEH V.B.: Cytogenetic findings in 200 children with mental retardation and multiple congenital anomalies of unknown cause. Am. J. Med. Genet., 1982, 12, 155-173.
    • (1982) Am. J. Med. Genet. , vol.12 , pp. 155-173
    • Coco, R.1    Penchaszadeh, V.B.2
  • 13
    • 0028947787 scopus 로고
    • Interstitial deletion of the long arm of chromosome 4, del(4)(q28→q31.3)
    • COPELLI S., DEL REY G., HEINRICH J. and COCO R.: Interstitial deletion of the long arm of chromosome 4, del(4)(q28→q31.3). Am. J. Med. Genet., 1995, 55, 77-79.
    • (1995) Am. J. Med. Genet. , vol.55 , pp. 77-79
    • Copelli, S.1    Del Rey, G.2    Heinrich, J.3    Coco, R.4
  • 15
  • 16
    • 0024455673 scopus 로고
    • Interstitial deletion, del(4)(q33q35.1), in a mother and two children
    • CURTIS M.A., SMITH R.A., SIBERT J. and HUGHES H.E.: Interstitial deletion, del(4)(q33q35.1), in a mother and two children. J. Med. Genet., 1989, 26, 652-654.
    • (1989) J. Med. Genet. , vol.26 , pp. 652-654
    • Curtis, M.A.1    Smith, R.A.2    Sibert, J.3    Hughes, H.E.4
  • 17
    • 0025105098 scopus 로고
    • Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a child with multiple congenital abnormalities
    • CURTIS M.A., QUARRELL O.W.J., COBON A.M. and CUMMINS M.: Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a child with multiple congenital abnormalities. J. Med. Genet., 1990, 27, 64-65.
    • (1990) J. Med. Genet. , vol.27 , pp. 64-65
    • Curtis, M.A.1    Quarrell, O.W.J.2    Cobon, A.M.3    Cummins, M.4
  • 18
    • 0019520088 scopus 로고
    • The del(4) (q31) syndrome - A recognizable disorder with atypical Robin malformation sequence
    • DAVIS J.M., CLARREN S.K. and SALK D.J.: 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
  • 19
    • 0020352876 scopus 로고
    • Interstitial deletion of the long arm of chromosome 4 in a patient with mental retardation and abnormal phenotype
    • DEL VALLE TORRADO M., LABARTA J.D. and MIGLIORINI A.M.: Interstitial deletion of the long arm of chromosome 4 in a patient with mental retardation and abnormal phenotype. J. Med. Genet., 1982, 19, 477.
    • (1982) J. Med. Genet. , vol.19 , pp. 477
    • Del Valle Torrado, M.1    Labarta, J.D.2    Migliorini, A.M.3
  • 20
    • 0024370425 scopus 로고
    • Terminal deletion in a severely retarded boy
    • DE MICHELENA M.I. and CAMPOS P.J.: Terminal deletion 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
  • 22
    • 0026775654 scopus 로고
    • Assignment of the aspartylglucosaminidase gene (AGA) to 4q33→q35 based on decreased activity in a girl with a 46,XX,del(4)(q33) karyotype
    • ENGELEN J., HAMERS A., SCHRANDER-STUMPEL C., MULDER H. and POORTHUIS B.: Assignment of the aspartylglucosaminidase gene (AGA) to 4q33→q35 based on decreased activity in a girl with a 46,XX,del(4)(q33) karyotype. Cytogenet. Cell Genet., 1992, 60, 208-209.
    • (1992) Cytogenet. Cell Genet. , vol.60 , pp. 208-209
    • Engelen, J.1    Hamers, A.2    Schrander-Stumpel, C.3    Mulder, H.4    Poorthuis, B.5
  • 24
    • 0024419523 scopus 로고
    • A new interstitial deletion of 4q(q21.1::q22.1)
    • FAGAN K. and GILL A.: A new interstitial deletion of 4q(q21.1::q22.1). J. Med. Genet. 1989, 26, 644-647.
    • (1989) J. Med. Genet , vol.26 , pp. 644-647
    • Fagan, K.1    Gill, A.2
  • 25
    • 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, 776-778.
    • (1989) J. Med. Genet. , vol.26 , pp. 776-778
    • Fagan, K.A.1    Morris, R.B.2
  • 26
    • 0016198877 scopus 로고
    • A propos d'un cas de deletion du bras long du chromosome B4 (B4q-)
    • FERRIER S. and FREUND M.: A propos d'un cas de deletion du bras long du chromosome B4 (B4q-). Arch. Genet., 1974, 47, 16-26.
    • (1974) Arch. Genet. , vol.47 , pp. 16-26
    • Ferrier, S.1    Freund, M.2
  • 27
    • 0020573879 scopus 로고
    • Le syndrome de deletion terminale du bras long du chromosome 4. A propos d'un cas personnel avec revue de la litterature
    • FRAPPAZ D., BOURGEOIS J., BERTHIER J.C., LAURENT C. and BETHENOD M.: Le syndrome de deletion terminale du bras long du chromosome 4. A propos d'un cas personnel avec revue de la litterature. Pediatrie, 1983, 38, 261-270.
    • (1983) Pediatrie , vol.38 , pp. 261-270
    • Frappaz, D.1    Bourgeois, J.2    Berthier, J.C.3    Laurent, C.4    Bethenod, M.5
  • 28
    • 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, 1978, 14, 355-358.
    • (1978) Birth Defects , vol.14 , pp. 355-358
    • Frias, J.L.1    Nelson, R.M.2    Ray, S.L.3
  • 30
    • 0026744729 scopus 로고
    • Rieger syndrome and interstitial 4q26 deletion
    • FRYNS J.P. and VAN DEN BERGHE H.: Rieger syndrome and interstitial 4q26 deletion, Genet. Counsel., 1992, 3, 153-154.
    • (1992) Genet. Counsel. , vol.3 , pp. 153-154
    • Fryns, J.P.1    Van Den Berghe, H.2
  • 31
    • 0031984311 scopus 로고    scopus 로고
    • Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a mentally retarded boy with a piebald trait, due to maternal insertion, ins(8;4)
    • FUJIMOTO A., REDDY K.S. and SPINKS R.: Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a mentally retarded boy with a piebald trait, due to maternal insertion, ins(8;4). Am. J. Med. Genet., 1998, 75, 78-81.
    • (1998) Am. J. Med. Genet. , vol.75 , pp. 78-81
    • Fujimoto, A.1    Reddy, K.S.2    Spinks, R.3
  • 33
    • 0016333851 scopus 로고
    • Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion
    • FUNDERBURK S.J. and CRANDALL B.F.: Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion. Am. J. Hum. Genet., 1974, 26, 715-722.
    • (1974) Am. J. Hum. Genet. , vol.26 , pp. 715-722
    • Funderburk, S.J.1    Crandall, B.F.2
  • 34
    • 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., 1973, 10, 83-85.
    • (1973) J. Med. Genet. , vol.10 , pp. 83-85
    • Golbus, M.S.1    Conte, F.A.2    Daentl, D.L.3
  • 36
    • 0030065497 scopus 로고    scopus 로고
    • Segregation of a paternal insertional translocation results in partial 4q monosomy or 4q trisomy in two siblings
    • HEGMANN K.M., SPIKES A.S., ORR-URTREGER A. and SHAFFER L.G.: Segregation of a paternal insertional translocation results in partial 4q monosomy or 4q trisomy in two siblings. Am. J. Med. Genet., 1996, 61, 10-15.
    • (1996) Am. J. Med. Genet. , vol.61 , pp. 10-15
    • Hegmann, K.M.1    Spikes, A.S.2    Orr-Urtreger, A.3    Shaffer, L.G.4
  • 37
    • 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. Paediatr. Child Health, 1993, 29, 473-475.
    • (1993) J. Paediatr. Child Health , vol.29 , pp. 473-475
    • Ho, N.K.1    Ng, I.S.L.2
  • 38
    • 0022480727 scopus 로고
    • Tentative assignment of piebald trait gene to chromosome band 4q12
    • HOO J.J. HASLAM R.H.A. and VAN ORMAN C.: Tentative assignment of piebald trait gene to chromosome band 4q12. Hum. Genet., 1986, 73, 230-231.
    • (1986) Hum. Genet. , vol.73 , pp. 230-231
    • Hoo, J.J.1    Haslam, R.H.A.2    Van Orman, C.3
  • 39
    • 0032406272 scopus 로고    scopus 로고
    • Prenatal diagnosis of de novo interstitial deletion of proximal 4q by maternal serum screening for Down syndrome
    • HSU T.Y., KUNG F.T., OU C.Y., HSIAO P.Y., HUANG F.J., CHANGCHIEN C.C. and CHANG S. Y.: Prenatal diagnosis of de novo interstitial deletion of proximal 4q by maternal serum screening for Down syndrome. Prenat. Diagn., 1998, 18, 1323-1327.
    • (1998) Prenat. Diagn. , vol.18 , pp. 1323-1327
    • Hsu, T.Y.1    Kung, F.T.2    Ou, C.Y.3    Hsiao, P.Y.4    Huang, F.J.5    Changchien, C.C.6    Chang, S.Y.7
  • 40
    • 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, 23, 474-477.
    • (1986) J. Med. Genet. , vol.23 , pp. 474-477
    • Jefferson, R.D.1    Burn, J.2    Gaunt, K.L.3    Hunter, S.4    Davison, E.V.5
  • 41
    • 0035281584 scopus 로고    scopus 로고
    • Interstitial deletion 4q32-q34 with ulnar deficiency: 4q33 May be critical region in 4q terminal deletion syndrome
    • KEELING S.L., LEE-JONES L. and THOMPSON P.: Interstitial deletion 4q32-q34 with ulnar deficiency: 4q33 may be critical region in 4q terminal deletion syndrome. Am. J. Med. Genet., 2001, 99, 94-98.
    • (2001) Am. J. Med. Genet. , vol.99 , pp. 94-98
    • Keeling, S.L.1    Lee-Jones, L.2    Thompson, P.3
  • 42
    • 0025008590 scopus 로고
    • Prenatal diagnosis of and midtrimester pathology with karyotype 46,XY,del(4)(q22q26). A case report
    • KOPPITCH F.C., RAMASHI A., QUERESHI F., BUDEV H., PERRIN E. and EVANS M.I.: Prenatal diagnosis of and midtrimester pathology with karyotype 46,XY,del(4)(q22q26). A case report. J. Reprod. Med., 1990, 35, 182-186.
    • (1990) J. Reprod. Med. , vol.35 , pp. 182-186
    • Koppitch, F.C.1    Ramashi, A.2    Quereshi, F.3    Budev, H.4    Perrin, E.5    Evans, M.I.6
  • 44
    • 0017553963 scopus 로고
    • Piebald trait in a retarded child with interstitial deletion of chromosome 4
    • LACASSIE Y., THURMON T.F., TRACY M.C. and PELIAS M.Z.: Piebald trait in a retarded child with interstitial deletion of chromosome 4. Am. J. Hum. Genet., 1977, 29, 641-642.
    • (1977) Am. J. Hum. Genet. , vol.29 , pp. 641-642
    • Lacassie, Y.1    Thurmon, T.F.2    Tracy, M.C.3    Pelias, M.Z.4
  • 45
    • 0020074443 scopus 로고
    • The child with congenital anomalies and interstitial deletion of the long arm of chromosome 4
    • LECH H., KUBALSKA J. and WISNIEWSKI L.: The child with congenital anomalies and interstitial deletion of the long arm of chromosome 4. Klin. Paediat., 1982, 194, 117-119.
    • (1982) Klin. Paediat. , vol.194 , pp. 117-119
    • Lech, H.1    Kubalska, J.2    Wisniewski, L.3
  • 48
    • 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
  • 49
    • 0038214796 scopus 로고
    • Severe mental retardation and mild dysmorphism: Association with an uncommon interstitial deletion of chromosome 4
    • MASCARI M.J., MOWREY P.N., RAMER J.C. and LADDA R.L.: Severe mental retardation and mild dysmorphism: association with an uncommon interstitial deletion of chromosome 4. Am. J. Hum. Genet., 1989, 45, A82.
    • (1989) Am. J. Hum. Genet. , vol.45
    • Mascari, M.J.1    Mowrey, P.N.2    Ramer, J.C.3    Ladda, R.L.4
  • 50
    • 0018902520 scopus 로고
    • Partial monosomy of long arm of chromosome 4 due to interstitial deletion
    • MGDERMOTT A., CAIN R. and HOWELL R.: Partial monosomy of long arm of chromosome 4 due to interstitial deletion. Hum. Genet., 1980, 53, 305-307.
    • (1980) Hum. Genet. , vol.53 , pp. 305-307
    • Mgdermott, A.1    Cain, R.2    Howell, R.3
  • 51
    • 0026470848 scopus 로고
    • Robin sequence and a deficiency of the left forearm in a girl with a deletion of chromosome 4q33-ter
    • MENKO F.H., MADAN K., BAART J.A. and BEUKENHORST H.L.: Robin sequence and a deficiency of the left forearm in a girl with a deletion of chromosome 4q33-ter. 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
  • 52
    • 0017407117 scopus 로고
    • Possible localization of Gc-system on chromosome 4. Loss of long arm 4 material associated with father-child incompatibility within the Gc-system
    • MIKKELSEN M., JACOBSEN P. and HENNINGSEN K.: Possible localization of Gc-system on chromosome 4. Loss of long arm 4 material associated with father-child incompatibility within the Gc-system. Hum. Hered., 1977, 27, 105-107.
    • (1977) Hum. Hered. , vol.27 , pp. 105-107
    • Mikkelsen, M.1    Jacobsen, P.2    Henningsen, K.3
  • 54
    • 0023695128 scopus 로고
    • Deletion of a single chromosome band 4q26 in a malformed girl: Exclusion of Rieger syndrome associated gene(s) from the 4q26 segment
    • MONTEGI T., NAKAMURA K., TERAKAWA T., OOHIRA A., MINODA K., KISHI K., YANAGAWA Y. and HAYAKAWA H.: Deletion of a single chromosome band 4q26 in a malformed girl: exclusion of Rieger syndrome associated gene(s) from the 4q26 segment. J. Med. Genet., 1988, 25, 628-633.
    • (1988) J. Med. Genet. , vol.25 , pp. 628-633
    • Montegi, T.1    Nakamura, K.2    Terakawa, T.3    Oohira, A.4    Minoda, K.5    Kishi, K.6    Yanagawa, Y.7    Hayakawa, H.8
  • 55
    • 0030908305 scopus 로고    scopus 로고
    • Deletion 4q21/4q22 syndrome: Two patients with de novo 4q21.3q23 and 4q13.2q23 deletions
    • NOWACZYK M.J.M., TESHIMA I.E., SIEGEL-BARTELT J. and CLARKE J.T.R.: Deletion 4q21/4q22 syndrome: two patients with de novo 4q21.3q23 and 4q13.2q23 deletions. Am. J. Med. Genet., 1997, 69, 400-405.
    • (1997) Am. J. Med. Genet. , vol.69 , pp. 400-405
    • Nowaczyk, M.J.M.1    Teshima, I.E.2    Siegel-Bartelt, J.3    Clarke, J.T.R.4
  • 56
    • 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., MACAULEY 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. Child., 1967, 42, 428-434.
    • (1967) Arch. Dis. Child. , vol.42 , pp. 428-434
    • Ockey, C.H.1    Feldman, G.V.2    Macauley, M.E.3    Delaney, M.J.4
  • 57
    • 0027829224 scopus 로고
    • Jarcho-Levin Syndrome. A Report of an Autopsy Case With Cytogenetic Analysis
    • PARK Y., GONG G., CHOE G., YU E., KIM K.S. and LEE I.: Jarcho-Levin Syndrome. A report of an autopsy case with cytogenetic analysis. J. Kor. Med. Sci., 1993, 8, 471-475.
    • (1993) J. Kor. Med. Sci. , vol.8 , pp. 471-475
    • Park, Y.1    Gong, G.2    Choe, G.3    Yu, E.4    Kim, K.S.5    Lee, I.6
  • 58
    • 0018473779 scopus 로고
    • Cytogenetic research techniques in humans and laboratory animals that can be applied most profitably to lifestock
    • PATHAK S.: Cytogenetic research techniques in humans and laboratory animals that can be applied most profitably to lifestock. J. Dairy Sci., 1979, 62, 836-843.
    • (1979) J. Dairy Sci. , vol.62 , pp. 836-843
    • Pathak, S.1
  • 59
    • 0025756294 scopus 로고
    • Second case report of del(4) (q25q27) and review of the literature
    • RACZENBEK C., KRASSIKOFF N. and COSPER P.: Second case report of del(4) (q25q27) and review of the literature. Clin. Genet., 1991, 39, 463-466.
    • (1991) Clin. Genet. , vol.39 , pp. 463-466
    • Raczenbek, C.1    Krassikoff, N.2    Cosper, P.3
  • 61
    • 0031906562 scopus 로고    scopus 로고
    • The 4q-syndrome: Delineation of the minimal critical region to within band 4q31
    • ROBERTSON S.P., O'DAY K. and BANKIER A.: The 4q-syndrome: delineation of the minimal critical region to within band 4q31. Clin. Genet., 1998, 53, 70-73.
    • (1998) Clin. Genet. , vol.53 , pp. 70-73
    • Robertson, S.P.1    O'Day, K.2    Bankier, A.3
  • 63
    • 0020053503 scopus 로고
    • The partial 4q monosomy. Report of a 5-year-old boy with deletion 4q31.3-→4qter
    • SANDIG K.R., MUECKE 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    Muecke, J.2    Trautmann, U.3
  • 64
    • 0026528252 scopus 로고
    • Interstitial deletion of the distal long arm of chromosome 4
    • SARDA P., LEFORT G., FRYNS J.P., HUMEAU C. and RIEU D.: Interstitial deletion of the distal long arm of chromosome 4. J. Med. Genet., 1992, 29, 259-261.
    • (1992) J. Med. Genet. , vol.29 , pp. 259-261
    • Sarda, P.1    Lefort, G.2    Fryns, J.P.3    Humeau, C.4    Rieu, D.5
  • 65
    • 0030738632 scopus 로고    scopus 로고
    • Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: Further evidence that the piebald trait maps to proximal 4q12
    • SCHINZEL A., BRAEGGER C.P., BRECEVIC L., DUTLY F. and BINKERT E: Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12. J. Med. Genet., 1997, 34, 692-695.
    • (1997) J. Med. Genet. , vol.34 , pp. 692-695
    • Schinzel, A.1    Braegger, C.P.2    Brecevic, L.3    Dutly, F.4    Binkert, E.5
  • 66
    • 0017649569 scopus 로고
    • Pericentric inversion and partial monosomy 4q associated with congenital anomalies
    • SERVILLE F. and BROUSTET A.: Pericentric inversion and partial monosomy 4q associated with congenital anomalies. Hum. Genet., 1977, 39, 239-242.
    • (1977) Hum. Genet. , vol.39 , pp. 239-242
    • Serville, F.1    Broustet, A.2
  • 67
    • 4243320926 scopus 로고
    • Congenital anomalies associated with partial deletion of the long arms of chromosome 4 (46,XY,del(4)(q31))
    • SHROFF M., ISRAEL 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, 122A.
    • (1981) Am. J. Hum. Genet. , vol.33
    • Shroff, M.1    Israel, J.2    Rosenthal, F.3
  • 69
    • 0030882115 scopus 로고    scopus 로고
    • Interstitial deletion of bands 4q12-→q13.1: Case report and review of proximal 4q deletions
    • SLAVOTINEK A. and KINGSTON H.: Interstitial deletion of bands 4q12→q13.1: case report and review of proximal 4q deletions. J. Med. Genet., 1997, 34, 862-865.
    • (1997) J. Med. Genet. , vol.34 , pp. 862-865
    • Slavotinek, A.1    Kingston, H.2
  • 70
    • 0020057712 scopus 로고
    • Terminal deletion (4)(q33) in a male infant
    • STAMBERG J., JABS E.W., 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
  • 71
    • 0002713174 scopus 로고    scopus 로고
    • The fetus and the neonatal infant
    • R.E. Behrman, R.M. Kliegman, H.B. Jenson (eds.). Philadelphia, W.B. Saunders Company
    • th ed., R.E. Behrman, R.M. Kliegman, H.B. Jenson (eds.). Philadelphia, W.B. Saunders Company, 2000, 474-486.
    • (2000) th Ed. , pp. 474-486
    • Stoll, B.J.1    Kliegman, R.M.2
  • 73
    • 0031779089 scopus 로고    scopus 로고
    • Interstitial deletion of the long arm of chromosome 4 (del(4)(q21.22q23)) and a liver tumor
    • SUWA K, MOMOI M.Y., YAMAGATA T. AND MORI Y.: Interstitial deletion of the long arm of chromosome 4 (del(4)(q21.22q23)) and a liver tumor. Am. J. Med. Genet., 1998, 78, 291-293.
    • (1998) Am. J. Med. Genet. , vol.78 , pp. 291-293
    • Suwa, K.1    Momoi, M.Y.2    Yamagata, T.3    Mori, Y.4
  • 74
    • 0025681194 scopus 로고
    • Deletion of chromosome 4: 46,XY, del (4) (q31.3) after gamete intrafallopian transfer and in vitro fertilization-embryo transfer
    • TEJADA M.I., MENDOZA R., CARBONERO K., LIZZARAGA M.A., ESCUDERO F. and BENITO J.A.: Deletion of chromosome 4: 46,XY, del (4) (q31.3) after gamete intrafallopian transfer and in vitro fertilization-embryo transfer. Fertil. Steril., 1990, 54, 953-954.
    • (1990) Fertil. Steril. , vol.54 , pp. 953-954
    • Tejada, M.I.1    Mendoza, R.2    Carbonero, K.3    Lizzaraga, M.A.4    Escudero, F.5    Benito, J.A.6
  • 75
    • 0020444095 scopus 로고
    • Two children with deletion of the long arm of chromosome 4 with a 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 a 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
  • 77
    • 0033590681 scopus 로고    scopus 로고
    • Child with velocardiofacial syndrome and del(4)(q34.2): Another critical region associated with a velocardiofacial syndrome-like phenotype
    • TSAI C.H., VAN DYKE D.L. and FELDMAN G.L.: Child with velocardiofacial syndrome and del(4)(q34.2): another critical region associated with a velocardiofacial syndrome-like phenotype. Am. J. Med. Genet., 1999, 82, 336-339.
    • (1999) Am. J. Med. Genet. , vol.82 , pp. 336-339
    • Tsai, C.H.1    Van Dyke, D.L.2    Feldman, G.L.3
  • 78
    • 0020665453 scopus 로고
    • Deletion of chromosome 4q33→qter. Is it different from 4q31→qter deletion syndrome?
    • TUCHMAN M., EBRAHIMI J. and GORLIN R.J.: 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
    • Tuchman, M.1    Ebrahimi, J.2    Gorlin, R.J.3
  • 79
    • 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
  • 81
    • 0025820319 scopus 로고
    • De novo interstitial deletion of 4q(46,XX,del(4)(q27q28.2)) with intact blood group-MN locus, confining its locus to 4q28.2-4q31.1
    • WAKUI K., NISHIDA T., MASUDA J.I., ITOH T., KATSUMATA D., OHNO T. and FUKUSHIMA Y.: De novo interstitial deletion of 4q(46,XX,del(4)(q27q28.2)) with intact blood group-MN locus, confining its locus to 4q28.2-4q31.1. Jap. J. Hum. Genet., 1991, 36, 149-153.
    • (1991) Jap. J. Hum. Genet. , vol.36 , pp. 149-153
    • Wakui, K.1    Nishida, T.2    Masuda, J.I.3    Itoh, T.4    Katsumata, D.5    Ohno, T.6    Fukushima, Y.7
  • 82
    • 0024323639 scopus 로고
    • Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompatibility within the Gc-system: Probable reduced gene dosage effect and partial piebald trait
    • YAMAMOTO Y., NISHIMOTO H. and IKEMOTO S.: Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompatibility within the Gc-system: probable reduced gene dosage effect and partial piebald trait. Am. J. Med. Genet., 1989, 32, 520-523.
    • (1989) Am. J. Med. Genet. , vol.32 , pp. 520-523
    • Yamamoto, Y.1    Nishimoto, H.2    Ikemoto, S.3
  • 83
    • 0020075872 scopus 로고
    • 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.: 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
  • 84
    • 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


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