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Volumn 59, Issue 4, 1995, Pages 476-483

Analysis of clinical variation seen in patients with 18q terminal deletions

Author keywords

18q syndrome; chromosomal; fluorescent in situ hybridization; parental origin

Indexed keywords

ARTICLE; CHROMOSOME 18Q; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL FEATURE; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC VARIABILITY; HUMAN; PRIORITY JOURNAL;

EID: 0028871377     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1320590414     Document Type: Article
Times cited : (80)

References (28)
  • 1
    • 0021213403 scopus 로고
    • Use of cultured human cells for biochemical analysis
    • Buchwald M (1984): Use of cultured human cells for biochemical analysis. Clin Biochem 17: 143–150.
    • (1984) Clin Biochem , vol.17 , pp. 143-150
    • Buchwald, M1
  • 2
    • 0021094659 scopus 로고
    • Parental origin of chromosome 15 deletion in Prader‐Willi syndrome
    • Butler MG, Palmer CG (1983): Parental origin of chromosome 15 deletion in Prader‐Willi syndrome. Lancet 1: 1285–1286.
    • (1983) Lancet , vol.1 , pp. 1285-1286
    • Butler, MG1    Palmer, CG2
  • 3
    • 0001441096 scopus 로고
    • Délétion partielle des bras longs du chromosome 18
    • De Grouchy J, Roper P, Salmon C (1964): Délétion partielle des bras longs du chromosome 18. Pathol Biol (Paris) 12: 579–582.
    • (1964) Pathol Biol (Paris) , vol.12 , pp. 579-582
    • De Grouchy, J1    Roper, P2    Salmon, C3
  • 4
    • 0020956481 scopus 로고
    • A child with 18q– syndrome and cerebellar astrocytoma
    • Faulkner KW, Holmes LB, Steinfeld A, Abroms IF (1983): A child with 18q–syndrome and cerebellar astrocytoma. J Pediatr 103: 600–602.
    • (1983) J Pediatr , vol.103 , pp. 600-602
    • Faulkner, KW1    Holmes, LB2    Steinfeld, A3    Abroms, IF4
  • 6
    • 0023155052 scopus 로고
    • Contribution to the 18q– syndrome: a patient with del(18)(q22.3qter)
    • Felding I, Kristoffersson U, Sjostrom H, Noren O (1987): Contribution to the 18q–syndrome: a patient with del(18)(q22.3qter). Clin Genet 31: 206–210.
    • (1987) Clin Genet , vol.31 , pp. 206-210
    • Felding, I1    Kristoffersson, U2    Sjostrom, H3    Noren, O4
  • 8
    • 0026588314 scopus 로고
    • Somatic cell hybrid deletion map of human chromosome 18
    • Kline AD, Rojas K, Mewar R, Moshinsky D, Overhauser J (1992): Somatic cell hybrid deletion map of human chromosome 18. Genomics 13: 1–6.
    • (1992) Genomics , vol.13 , pp. 1-6
    • Kline, AD1    Rojas, K2    Mewar, R3    Moshinsky, D4    Overhauser, J5
  • 10
    • 0024619007 scopus 로고
    • Angelman and Prader‐Willi syndrome share a common chromosome 15 deletion but differ in parental origin of the deletion
    • Knoll JHM, Nicholls RD, Magenis RE, Graham JM Jr, Lalande M, Latt SA (1989): Angelman and Prader‐Willi syndrome share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 32: 285–290.
    • (1989) Am J Med Genet , vol.32 , pp. 285-290
    • Knoll, JHM1    Nicholls, RD2    Magenis, RE3    Graham, JM4    Lalande, M5    Latt, SA6
  • 11
  • 12
    • 0019155613 scopus 로고
    • Selective IgA deficiency with 18q+ and 18q− karyotypic anomalies
    • Lewkonia RM, Lin CC, Haslam RHA (1980): Selective IgA deficiency with 18q+ and 18q− karyotypic anomalies. J Med Genet 17: 453–456.
    • (1980) J Med Genet , vol.17 , pp. 453-456
    • Lewkonia, RM1    Lin, CC2    Haslam, RHA3
  • 13
    • 0026657472 scopus 로고
    • Confirmation of a cryptic unbalanced translocation using whole chromosome fluorescence in situ hybridization
    • Mewar R, Kline AD, Jackson L, Overhauser J (1992): Confirmation of a cryptic unbalanced translocation using whole chromosome fluorescence in situ hybridization. Am J Med Genet 44: 477–481.
    • (1992) Am J Med Genet , vol.44 , pp. 477-481
    • Mewar, R1    Kline, AD2    Jackson, L3    Overhauser, J4
  • 15
    • 0018844854 scopus 로고
    • Distal 18q deletion without clinical findings of 18q– syndrome
    • Qazi QH, Madahar C, Alvi S, McGann B (1980): Distal 18q deletion without clinical findings of 18q–syndrome. Ann Genet (Paris) 23: 60–62.
    • (1980) Ann Genet (Paris) , vol.23 , pp. 60-62
    • Qazi, QH1    Madahar, C2    Alvi, S3    McGann, B4
  • 16
    • 0027358745 scopus 로고
    • Sublocalization of 21 chromosome 18‐specific microsatellite markers
    • Rojas K, Overhauser J (1993): Sublocalization of 21 chromosome 18‐specific microsatellite markers. Genomics 18: 169–171.
    • (1993) Genomics , vol.18 , pp. 169-171
    • Rojas, K1    Overhauser, J2
  • 17
    • 0028921591 scopus 로고
    • Integration of the 1993–1994 Genethon genetic linkage map for chromosome 18 with the physical map using a somatic cell hybrid mapping panel
    • Rojas K, Overhauser J (1995): Integration of the 1993–1994 Genethon genetic linkage map for chromosome 18 with the physical map using a somatic cell hybrid mapping panel. Genomics 25: 329–330.
    • (1995) Genomics , vol.25 , pp. 329-330
    • Rojas, K1    Overhauser, J2
  • 18
    • 0003827196 scopus 로고
    • Catalogue of Unbalanced Chromosome Aberrations in Man
    • Schinzel A (1984): “ Catalogue of Unbalanced Chromosome Aberrations in Man.” New York: Walter de Gruyter, pp 319–324.
    • (1984) , pp. 319-324
    • Schinzel, A1
  • 20
    • 0020321057 scopus 로고
    • Pernicious anemia, 18q deletion syndrome, and IgA deficiency
    • Stricker RB, Linker CA (1982): Pernicious anemia, 18q deletion syndrome, and IgA deficiency. JAMA 248: 1359–1360.
    • (1982) JAMA , vol.248 , pp. 1359-1360
    • Stricker, RB1    Linker, CA2
  • 21
    • 0028241923 scopus 로고
    • Interstitial deletions are not the main mechanism leading to 18q deletions
    • Strathdee G, Harrison W, Reithman HC, Goodart SA, Overhauser J (1994): Interstitial deletions are not the main mechanism leading to 18q deletions. Am J Hum Genet 54: 1085–1091.
    • (1994) Am J Hum Genet , vol.54 , pp. 1085-1091
    • Strathdee, G1    Harrison, W2    Reithman, HC3    Goodart, SA4    Overhauser, J5
  • 22
    • 0014953091 scopus 로고
    • Familial occurance of 18q–
    • Subrt I, Pokorny J (1970): Familial occurance of 18q–. Humangenetik 10: 181–187.
    • (1970) Humangenetik , vol.10 , pp. 181-187
    • Subrt, I1    Pokorny, J2
  • 23
    • 0026076170 scopus 로고
    • Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion
    • Weiss BJ, Kamholz J, Ritter A, Zackai EH, McDonald‐McGinn DM, Emanuel B, Fischbek KH (1991): Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion. Ann Neurol 30: 419–423.
    • (1991) Ann Neurol , vol.30 , pp. 419-423
    • Weiss, BJ1    Kamholz, J2    Ritter, A3    Zackai, EH4    McDonald‐McGinn, DM5    Emanuel, B6    Fischbek, KH7
  • 25
    • 0014974374 scopus 로고
    • Clinical and chromosomal studies of the 18q– syndrome
    • Wertelecki W, Gerald PS (1971): Clinical and chromosomal studies of the 18q–syndrome. J Pediatr 78: 44–52.
    • (1971) J Pediatr , vol.78 , pp. 44-52
    • Wertelecki, W1    Gerald, PS2
  • 26
    • 0025052050 scopus 로고
    • Maternal origin of 18q11–13 deletions in Angelman syndrome suggests a role for genomic imprinting
    • Williams CA, Zori RT, Stone JW, Gray BA, Cantu ES, Ostrer H (1990): Maternal origin of 18q11–13 deletions in Angelman syndrome suggests a role for genomic imprinting. Am J Med Genet 35: 350–353.
    • (1990) Am J Med Genet , vol.35 , pp. 350-353
    • Williams, CA1    Zori, RT2    Stone, JW3    Gray, BA4    Cantu, ES5    Ostrer, H6
  • 27
    • 0018630218 scopus 로고
    • Syndromes associated with deletion of the long arm of chromosome 18 [del(18q)]
    • Wilson MG, Towner JW, Forsman I, Siris E (1979): Syndromes associated with deletion of the long arm of chromosome 18 [del(18q)]. Am J Med Genet 3: 155–174.
    • (1979) Am J Med Genet , vol.3 , pp. 155-174
    • Wilson, MG1    Towner, JW2    Forsman, I3    Siris, E4
  • 28
    • 0017258328 scopus 로고
    • High resolution of human chromosomes
    • Yuris JJ (1976): High resolution of human chromosomes. Science 191: 1268–1270.
    • (1976) Science , vol.191 , pp. 1268-1270
    • Yuris, JJ1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.