메뉴 건너뛰기




Volumn 24, Issue 4, 2015, Pages 663-674

Adults with Chromosome 18 Abnormalities

Author keywords

18p ; 18q ; Chromosome 18; De grouchy syndrome; Genetic counceling; Ring 18; Tetrasomy 18p

Indexed keywords

ADULT; AGED; CHILD; CHROMOSOME 18; CHROMOSOME ABERRATION; DNA MICROARRAY; FEMALE; GENETIC COUNSELING; GENETICS; HUMAN; INFANT; LONGITUDINAL STUDY; MALE; MIDDLE AGED; NEWBORN; PHENOTYPE; PREGNANCY; QUALITY OF LIFE;

EID: 84938201372     PISSN: 10597700     EISSN: 15733599     Source Type: Journal    
DOI: 10.1007/s10897-014-9793-5     Document Type: Article
Times cited : (9)

References (67)
  • 2
    • 33745661666 scopus 로고    scopus 로고
    • Adult-onset seizure disorder in the 18q deletion syndrome
    • COI: 1:STN:280:DC%2BD283mtlWlsg%3D%3D, PID: 16541216
    • Adab, N., & Larner, A. J. (2006). Adult-onset seizure disorder in the 18q deletion syndrome. Journal of Neurology, 253, 527–528.
    • (2006) Journal of Neurology , vol.253 , pp. 527-528
    • Adab, N.1    Larner, A.J.2
  • 4
    • 80155149527 scopus 로고    scopus 로고
    • Prenatal diagnosis of a mentally retarded woman with mosaic ring chromosome 18
    • PID: 22090726
    • Bagherizadeh, E., Behjati, F., Saberi, S. H., & Shafeghati, Y. (2011). Prenatal diagnosis of a mentally retarded woman with mosaic ring chromosome 18. Indian Journal of Human Genetics, 17(2), 111–113.
    • (2011) Indian Journal of Human Genetics , vol.17 , Issue.2 , pp. 111-113
    • Bagherizadeh, E.1    Behjati, F.2    Saberi, S.H.3    Shafeghati, Y.4
  • 6
    • 0025893611 scopus 로고
    • Molecular identification of a small supernumerary marker chromosome by in situ hybridization: diagnosis of an isochromosome 18p with probe L1.84
    • COI: 1:STN:280:DyaK3Mzit1ylsw%3D%3D, PID: 1863990
    • Blennow, E., & Nielsen, K. B. (1991). Molecular identification of a small supernumerary marker chromosome by in situ hybridization: diagnosis of an isochromosome 18p with probe L1.84. Clinical Genetics, 39, 429–433.
    • (1991) Clinical Genetics , vol.39 , pp. 429-433
    • Blennow, E.1    Nielsen, K.B.2
  • 7
    • 0017258365 scopus 로고
    • [Pituitary dwarfism and “goldenhar type = multiple deformities in a patient with deletion of the short arm of chromosome 18](article in Italian)
    • Buffoni, L., Tarateta, A., Aicardi, G., Vianello, M. G., & Bonioli, E. (1976). [Pituitary dwarfism and “goldenhar type = multiple deformities in a patient with deletion of the short arm of chromosome 18](article in Italian). Minerva Pediatrica, 29(12–3), 716–729.
    • (1976) Minerva Pediatrica , vol.29 , Issue.12-3 , pp. 716-729
    • Buffoni, L.1    Tarateta, A.2    Aicardi, G.3    Vianello, M.G.4    Bonioli, E.5
  • 9
    • 0025007098 scopus 로고
    • The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization
    • COI: 1:STN:280:DyaK3czmsFSnsA%3D%3D, PID: 2393023
    • Callen, D. F., Freemantle, C. J., Ringenbergs, M. L., Baker, E., Eyre, H. J., Romain, D., et al. (1990). The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization. American Journal of Human Genetics, 47, 493–498.
    • (1990) American Journal of Human Genetics , vol.47 , pp. 493-498
    • Callen, D.F.1    Freemantle, C.J.2    Ringenbergs, M.L.3    Baker, E.4    Eyre, H.J.5    Romain, D.6
  • 11
    • 0026710963 scopus 로고
    • Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: report on a new affected child and follow-up on the original reported familial cases
    • COI: 1:STN:280:DyaK383ps1ajsw%3D%3D, PID: 1605245
    • Chudley, A. E., Kovnats, S., & Ray, M. (1992). Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: report on a new affected child and follow-up on the original reported familial cases. American Journal of Medical Genetics, 43, 535–538.
    • (1992) American Journal of Medical Genetics , vol.43 , pp. 535-538
    • Chudley, A.E.1    Kovnats, S.2    Ray, M.3
  • 12
  • 13
    • 0015267458 scopus 로고
    • A ring chromosome (no. 18) in a cyclops
    • COI: 1:STN:280:DyaE383mt1yntQ%3D%3D, PID: 4115481
    • Cohen, M. M., Storm, D. F., & Capraro, V. J. (1972). A ring chromosome (no. 18) in a cyclops. Clinical Genetics, 3, 249–252.
    • (1972) Clinical Genetics , vol.3 , pp. 249-252
    • Cohen, M.M.1    Storm, D.F.2    Capraro, V.J.3
  • 16
    • 0015314038 scopus 로고
    • Deletion of the long arms of chromosome 18 (46, XX,18q-) associated with absence of IgA and hypothyroidism in an adult
    • COI: 1:STN:280:DyaE387ot1Crsg%3D%3D, PID: 4112566
    • Faed, M. J. W., Whyte, R., Paterson, C. R., McCathie, M., & Robertson, J. (1972). Deletion of the long arms of chromosome 18 (46, XX,18q-) associated with absence of IgA and hypothyroidism in an adult. Journal of Medical Genetics, 9, 102–105.
    • (1972) Journal of Medical Genetics , vol.9 , pp. 102-105
    • Faed, M.J.W.1    Whyte, R.2    Paterson, C.R.3    McCathie, M.4    Robertson, J.5
  • 17
  • 18
    • 0023155052 scopus 로고
    • Contribution to the 18q- syndrome. A patient with del(18)(q22.3qter)
    • COI: 1:STN:280:DyaL2s3ksFSntA%3D%3D, PID: 3109789
    • Felding, I., Kristoffersson, U., Sjostrom, H., & Noren, O. (1987). Contribution to the 18q- syndrome. A patient with del(18)(q22.3qter). Clinical Genetics, 31, 206–210.
    • (1987) Clinical Genetics , vol.31 , pp. 206-210
    • Felding, I.1    Kristoffersson, U.2    Sjostrom, H.3    Noren, O.4
  • 19
    • 0026734117 scopus 로고
    • Autism and ring chromosome 18 mosaicism
    • COI: 1:STN:280:DyaK38zos1OhtQ%3D%3D, PID: 1516230
    • Fryns, J. P., & Kleczkowska, A. (1992). Autism and ring chromosome 18 mosaicism. Clinical Genetics, 42, 55.
    • (1992) Clinical Genetics , vol.42 , pp. 55
    • Fryns, J.P.1    Kleczkowska, A.2
  • 21
    • 0026731934 scopus 로고
    • Transmission of ring chromosome 18 46, XX/46, XX, r(18) mosaicism in a mother and ring chromosome 18 syndrome in her son
    • COI: 1:STN:280:DyaK38zpvVaquw%3D%3D
    • Fryns, J. P., Kleczkowska, A., Smeets, E., & Van Den Berghe, H. (1992). Transmission of ring chromosome 18 46, XX/46, XX, r(18) mosaicism in a mother and ring chromosome 18 syndrome in her son. Annual Review of Genetics, 35(2), 121–123.
    • (1992) Annual Review of Genetics , vol.35 , Issue.2 , pp. 121-123
    • Fryns, J.P.1    Kleczkowska, A.2    Smeets, E.3    Van Den Berghe, H.4
  • 23
    • 0008651993 scopus 로고
    • 18p- syndrome: an unusual etiology for familial delayed development with mild dysmorphia
    • Harris, C. J., Israel, J. N., & Okada, L. E. (1983). 18p- syndrome: an unusual etiology for familial delayed development with mild dysmorphia. Journal of Human Genetics, 35, 94A.
    • (1983) Journal of Human Genetics , vol.35 , pp. 94A
    • Harris, C.J.1    Israel, J.N.2    Okada, L.E.3
  • 24
    • 67649881934 scopus 로고    scopus 로고
    • High resolution genomic analysis of 18q– using oligo-microarray comparative genomic hybridization (aCGH)
    • COI: 1:CAS:528:DC%2BD1MXpsVejtrw%3D, PID: 19533772
    • Heard, P. L., Carter, E. M., Crandall, A. C., Sebold, C., Hale, D. E., & Cody, J. D. (2009). High resolution genomic analysis of 18q– using oligo-microarray comparative genomic hybridization (aCGH). American Journal of Medical Genetics. Part A, 149A, 1431–1437.
    • (2009) American Journal of Medical Genetics. Part A , vol.149A , pp. 1431-1437
    • Heard, P.L.1    Carter, E.M.2    Crandall, A.C.3    Sebold, C.4    Hale, D.E.5    Cody, J.D.6
  • 25
    • 0014390205 scopus 로고
    • The 18p- syndrome. Report of 2 cases
    • COI: 1:STN:280:DyaF1M3ltl2qtw%3D%3D
    • Jacobsen, P., & Mikkelsen, M. (1968). The 18p- syndrome. Report of 2 cases. Annual Review of Genetics, 11(4), 211–216.
    • (1968) Annual Review of Genetics , vol.11 , Issue.4 , pp. 211-216
    • Jacobsen, P.1    Mikkelsen, M.2
  • 27
    • 76749165708 scopus 로고    scopus 로고
    • Interstitial deletion of 18q: comparative genomic hybridization array analysis of 46, XX, del(18)(q21.2q21.33)
    • COI: 1:CAS:528:DC%2BC3cXitVSju7w%3D, PID: 19813260
    • Kato, Z., Morimoto, W., Kimura, T., Matsushima, A., & Kondo, N. (2010). Interstitial deletion of 18q: comparative genomic hybridization array analysis of 46, XX, del(18)(q21.2q21.33). Birth Defects Research. Part A, Clinical and Molecular Teratology, 88, 132–135.
    • (2010) Birth Defects Research. Part A, Clinical and Molecular Teratology , vol.88 , pp. 132-135
    • Kato, Z.1    Morimoto, W.2    Kimura, T.3    Matsushima, A.4    Kondo, N.5
  • 31
    • 0014645912 scopus 로고
    • Familial 18q- syndrome
    • COI: 1:STN:280:DyaE3c7ltFOltw%3D%3D
    • Law, E. M., & Masterson, J. G. (1969). Familial 18q- syndrome. Annual Review of Genetics, 12(4), 215–222.
    • (1969) Annual Review of Genetics , vol.12 , Issue.4 , pp. 215-222
    • Law, E.M.1    Masterson, J.G.2
  • 33
    • 0027413923 scopus 로고
    • 46,XY del(18)(q21.3q22.2) with mosaicism of r(18) and a milder form of the 18q- syndrome
    • COI: 1:STN:280:DyaK3s7ptlehtw%3D%3D, PID: 8448905
    • Maaswinkel-Mooij, P. D., de Jong, P., & Beverstock, G. C. (1993). 46,XY del(18)(q21.3q22.2) with mosaicism of r(18) and a milder form of the 18q- syndrome. Clinical Genetics, 43, 76–78.
    • (1993) Clinical Genetics , vol.43 , pp. 76-78
    • Maaswinkel-Mooij, P.D.1    de Jong, P.2    Beverstock, G.C.3
  • 35
    • 33747290683 scopus 로고    scopus 로고
    • Familial deletion 18p syndrome: case report
    • PID: 16842614
    • Maranda, B., Lemieux, N., & Lemyre, E. (2006). Familial deletion 18p syndrome: case report. BMC Medical Genetics, 7, 60.
    • (2006) BMC Medical Genetics , vol.7 , pp. 60
    • Maranda, B.1    Lemieux, N.2    Lemyre, E.3
  • 39
    • 0018693385 scopus 로고
    • 18p- syndrome resulting from translocation (13q;18q) in a mildly affected adult male
    • COI: 1:STN:280:DyaL3c%2FnsV2juw%3D%3D, PID: 513088
    • Moedjono, S. J., Funderburk, S. J., & Sparkes, R. S. (1979). 18p- syndrome resulting from translocation (13q;18q) in a mildly affected adult male. Journal of Medical Genetics, 16, 399–402.
    • (1979) Journal of Medical Genetics , vol.16 , pp. 399-402
    • Moedjono, S.J.1    Funderburk, S.J.2    Sparkes, R.S.3
  • 40
    • 33745817489 scopus 로고    scopus 로고
    • Global brain dysmyelination with above-average verbal skills in 18q- syndrome with a 17 Mb terminal deletion
    • COI: 1:STN:280:DC%2BD28vktlaqtA%3D%3D, PID: 16867037
    • Netzer, C., Helmstaedter, C., Ehrbrecht, A., Engels, H., Schwanitz, G., Urbach, H., et al. (2006). Global brain dysmyelination with above-average verbal skills in 18q- syndrome with a 17 Mb terminal deletion. Acta Neurologica Scandinavica, 114, 133–138.
    • (2006) Acta Neurologica Scandinavica , vol.114 , pp. 133-138
    • Netzer, C.1    Helmstaedter, C.2    Ehrbrecht, A.3    Engels, H.4    Schwanitz, G.5    Urbach, H.6
  • 41
    • 0018170883 scopus 로고
    • Small metacentric nonsatellited extra chromosome: report of five memtally retarded individuals and review of literature
    • COI: 1:STN:280:DyaE1M%2FkslSgtw%3D%3D, PID: 711239
    • Nielsen, K. B., Dyggve, H., Friedrich, U., Hobolth, N., Lyngbye, T., & Mikkelsen, M. (1978). Small metacentric nonsatellited extra chromosome: report of five memtally retarded individuals and review of literature. Human Genetics, 44, 59–69.
    • (1978) Human Genetics , vol.44 , pp. 59-69
    • Nielsen, K.B.1    Dyggve, H.2    Friedrich, U.3    Hobolth, N.4    Lyngbye, T.5    Mikkelsen, M.6
  • 42
    • 0013881483 scopus 로고
    • Partial 18 monosomy in the cyclops malformation
    • COI: 1:STN:280:DyaF28%2FntFOjsA%3D%3D, PID: 5902089
    • Nitowsky, H. M., Sindhvananda, N., Konigsberg, U. R., & Weinberg, T. (1966). Partial 18 monosomy in the cyclops malformation. Pediatrics, 37(2), 260–269.
    • (1966) Pediatrics , vol.37 , Issue.2 , pp. 260-269
    • Nitowsky, H.M.1    Sindhvananda, N.2    Konigsberg, U.R.3    Weinberg, T.4
  • 43
    • 34548446469 scopus 로고    scopus 로고
    • Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients
    • PID: 17786116
    • Portnoi, M. F., Gruchy, N., Marlin, S., Finkel, L., Denoyelle, F., Dubourg, C., et al. (2007). Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients. Clinical Dysmorphology, 16, 247–252.
    • (2007) Clinical Dysmorphology , vol.16 , pp. 247-252
    • Portnoi, M.F.1    Gruchy, N.2    Marlin, S.3    Finkel, L.4    Denoyelle, F.5    Dubourg, C.6
  • 46
    • 0035889374 scopus 로고    scopus 로고
    • Characterization of a heritable partial monosomy 18p by molecular and cytogenetic analysis
    • COI: 1:STN:280:DC%2BD3MnpsFOgsQ%3D%3D, PID: 11746025
    • Rigola, M. A., Plaja, A., Mediano, C., Miro, R., Egozeue, J., & Fuster, C. (2001). Characterization of a heritable partial monosomy 18p by molecular and cytogenetic analysis. American Journal of Medical Genetics, 104, 37–41.
    • (2001) American Journal of Medical Genetics , vol.104 , pp. 37-41
    • Rigola, M.A.1    Plaja, A.2    Mediano, C.3    Miro, R.4    Egozeue, J.5    Fuster, C.6
  • 48
    • 58149417339 scopus 로고
    • Deletion of chromosome group E and thyroid autoimmunity
    • Ruvalcaba, R. H. A. (1970). Deletion of chromosome group E and thyroid autoimmunity. Journal of Pediatrics, 77, 343–344.
    • (1970) Journal of Pediatrics , vol.77 , pp. 343-344
    • Ruvalcaba, R.H.A.1
  • 49
    • 0036362854 scopus 로고    scopus 로고
    • Molecular characterization of 18p deletions: identification of a breakpoint cluster
    • COI: 1:CAS:528:DC%2BD38XhtlGktLw%3D, PID: 11839953
    • Schaub, R. L., Reveles, X. T., Baillargeon, J. G., Leach, R. J., & Cody, J. D. (2002). Molecular characterization of 18p deletions: identification of a breakpoint cluster. Genetics in Medicine, 4, 15–19.
    • (2002) Genetics in Medicine , vol.4 , pp. 15-19
    • Schaub, R.L.1    Reveles, X.T.2    Baillargeon, J.G.3    Leach, R.J.4    Cody, J.D.5
  • 51
    • 0025350269 scopus 로고
    • Tetrasomy 18p in a child with trisomy 18 phenotype
    • COI: 1:STN:280:DyaK3czhtlyhuw%3D%3D, PID: 2368801
    • Singer, T. S., Kohn, G., & Yatziv, S. (1990). Tetrasomy 18p in a child with trisomy 18 phenotype. American Journal of Medical Genetics, 36, 144–147.
    • (1990) American Journal of Medical Genetics , vol.36 , pp. 144-147
    • Singer, T.S.1    Kohn, G.2    Yatziv, S.3
  • 52
    • 0014953091 scopus 로고
    • Familial occurrence of 18q-
    • COI: 1:STN:280:DyaE3M%2FgtlamtA%3D%3D, PID: 5507053
    • Subrt, I., & Pokorny, J. (1970). Familial occurrence of 18q-. Humangenetik, 10, 181–187.
    • (1970) Humangenetik , vol.10 , pp. 181-187
    • Subrt, I.1    Pokorny, J.2
  • 56
    • 0030836601 scopus 로고    scopus 로고
    • Case report: de novo inherited 18p deletion in a mother–fetus pair with extremely variable expression, confirmed by fluorescence in situ hybridization (FISH) analysis
    • COI: 1:STN:280:DyaK2sznt1altg%3D%3D, PID: 9228504
    • Tonk, V., & Krishna, J. (1997). Case report: de novo inherited 18p deletion in a mother–fetus pair with extremely variable expression, confirmed by fluorescence in situ hybridization (FISH) analysis. European Journal of Obstetrics and Gynecology and Reproductive Biology, 73, 193–196.
    • (1997) European Journal of Obstetrics and Gynecology and Reproductive Biology , vol.73 , pp. 193-196
    • Tonk, V.1    Krishna, J.2
  • 58
    • 0001108518 scopus 로고
    • Familial short arm deficiency of chromosome 18 concomitant with arinencephaly and alopecia congenital
    • COI: 1:STN:280:DyaF2M7jvFChtg%3D%3D, PID: 14334740
    • Uchida, I. A., McRae, K. N., Wang, H. C., & Ray, M. (1965). Familial short arm deficiency of chromosome 18 concomitant with arinencephaly and alopecia congenital. American Journal of Human Genetics, 17(5), 410–419.
    • (1965) American Journal of Human Genetics , vol.17 , Issue.5 , pp. 410-419
    • Uchida, I.A.1    McRae, K.N.2    Wang, H.C.3    Ray, M.4
  • 61
    • 0025802099 scopus 로고
    • Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q211
    • COI: 1:STN:280:DyaK3MzivVamsA%3D%3D, PID: 1867279
    • Warburg, M., Sjo, O., Tranebjaerg, L., & Fledelius, H. C. (1991). Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q211. American Journal of Medical Genetics, 39, 288–293.
    • (1991) American Journal of Medical Genetics , vol.39 , pp. 288-293
    • Warburg, M.1    Sjo, O.2    Tranebjaerg, L.3    Fledelius, H.C.4
  • 62
    • 0015075043 scopus 로고
    • A single nasal orifice and severe intrauterine growth retardation in a case of 46, XX,18r
    • Watanabe, R. L., Gardner, L. I., & Galvis, A. G. (1971). A single nasal orifice and severe intrauterine growth retardation in a case of 46, XX,18r. Annual Review of Genetics, 14, 139–142.
    • (1971) Annual Review of Genetics , vol.14 , pp. 139-142
    • Watanabe, R.L.1    Gardner, L.I.2    Galvis, A.G.3
  • 63
    • 0026076170 scopus 로고
    • Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18 deletion
    • COI: 1:STN:280:DyaK38%2FmtVyqtw%3D%3D, PID: 1719916
    • Weiss, B. J., Kamholz, J., Ritter, A., Zackai, E. H., McDonald-McGinn, D. M., Emanuel, B., et al. (1991). Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18 deletion. Annals of Neurology, 30, 419–423.
    • (1991) Annals of Neurology , vol.30 , pp. 419-423
    • Weiss, B.J.1    Kamholz, J.2    Ritter, A.3    Zackai, E.H.4    McDonald-McGinn, D.M.5    Emanuel, B.6
  • 64
    • 33744829020 scopus 로고    scopus 로고
    • Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation
    • Wester, U., Bondeson, M. L., Edeby, C., & Anneren, G. (2006). Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation. American Journal of Medical Genetics. Part A, 140A, 1164–1171.
    • (2006) American Journal of Medical Genetics. Part A , vol.140A , pp. 1164-1171
    • Wester, U.1    Bondeson, M.L.2    Edeby, C.3    Anneren, G.4
  • 65
    • 0018630218 scopus 로고
    • Syndromes associated with deletion of the long arm of chromosome 18(del(18q))
    • COI: 1:STN:280:DyaE1M3ltlWgsA%3D%3D, PID: 474629
    • Wilson, M. G., Towner, J. W., Forsman, I., & Siris, E. (1979). Syndromes associated with deletion of the long arm of chromosome 18(del(18q)). American Journal of Medical Genetics, 3, 155–174.
    • (1979) American Journal of Medical Genetics , vol.3 , pp. 155-174
    • Wilson, M.G.1    Towner, J.W.2    Forsman, I.3    Siris, E.4
  • 66
    • 0014853324 scopus 로고
    • Ocular and cerebral abnormalities in chromosome 18 deletion defect
    • COI: 1:STN:280:DyaE3c3msVKnsQ%3D%3D, PID: 4988943
    • Yanoff, M., Rorke, L. B., & Niederer, B. S. (1970). Ocular and cerebral abnormalities in chromosome 18 deletion defect. American Journal of Ophthalmology, 70(3), 391–402.
    • (1970) American Journal of Ophthalmology , vol.70 , Issue.3 , pp. 391-402
    • Yanoff, M.1    Rorke, L.B.2    Niederer, B.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.