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Volumn 28, Issue 9, 2005, Pages 657-661

Trisomy chromosome (22)(q13.1-qter) as a result of paternal inversion (22)(p11q13.1) proved using region-specific FISH probes

Author keywords

Chromosome 22; Distal trisomy 22; dup(22); inv(22)

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 22P; CHROMOSOME 22Q; CHROMOSOME INVERSION; CHROMOSOME NOR; CLEFT LIP; CLEFT PALATE; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; CRYPTORCHISM; FLUORESCENCE IN SITU HYBRIDIZATION; GENE PROBE; GROWTH RETARDATION; HEMIVERTEBRA; HUMAN; HYPERTELORISM; HYPOSPADIAS; LOW SET EAR; MALE; MICROCEPHALY; MICROGNATHIA; NEWBORN; PATERNITY; SILVER STAINING; SPINE MALFORMATION; TRISOMY; TRISOMY 22;

EID: 27744531008     PISSN: 02558270     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (9)

References (13)
  • 1
    • 0029839166 scopus 로고    scopus 로고
    • Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22
    • Dawson AJ, Mears AJ, Chudley AE, Bech-Hansen T, McDermid H. Der(22)t(11;22) resulting from a paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22. J Med Genet 1996;33:952-6.
    • (1996) J Med Genet , vol.33 , pp. 952-956
    • Dawson, A.J.1    Mears, A.J.2    Chudley, A.E.3    Bech-Hansen, T.4    McDermid, H.5
  • 2
    • 0028395061 scopus 로고
    • Molecular cytogenetic studies of children with marker chromosomes
    • Hou JW, Liu CH, Wang TR. Molecular cytogenetic studies of children with marker chromosomes. J Formos Med Assoc 1994;93:205-9.
    • (1994) J Formos Med Assoc , vol.93 , pp. 205-209
    • Hou, J.W.1    Liu, C.H.2    Wang, T.R.3
  • 3
    • 0037230472 scopus 로고    scopus 로고
    • Supernumerary chromosome marker der(22)t(11;22) resulting from a maternal balanced translocation: A case report
    • Hou JW. Supernumerary chromosome marker der(22)t(11;22) resulting from a maternal balanced translocation: a case report. Chang Gung Med J 2003;26:48-52.
    • (2003) Chang Gung Med J , vol.26 , pp. 48-52
    • Hou, J.W.1
  • 4
    • 0019484902 scopus 로고
    • Incomplete trisomy 22: II. Familial trisomy of the distal segment of chromosome 22q in two brothers from a mother with a translocation, t(6;22)(q27;q13)
    • Schinzel A. Incomplete trisomy 22: II. Familial trisomy of the distal segment of chromosome 22q in two brothers from a mother with a translocation, t(6;22)(q27;q13). Hum Genet 1981;56:263-8.
    • (1981) Hum Genet , vol.56 , pp. 263-268
    • Schinzel, A.1
  • 5
    • 0020594336 scopus 로고
    • Duplication of the segment q12.2→qter of chromosome 22 due to paternal inversion 22 (p13q12.2)
    • Fujimoto A, Wilson MG, Towner JW. Duplication of the segment q12.2→qter of chromosome 22 due to paternal inversion 22 (p13q12.2). Hum Genet 1983;63:82-4.
    • (1983) Hum Genet , vol.63 , pp. 82-84
    • Fujimoto, A.1    Wilson, M.G.2    Towner, J.W.3
  • 6
    • 0023232927 scopus 로고
    • Chromosomal polymorphisms of 1, 9, 16, and Y in 4 major ethnic groups: A large prenatal study
    • Hsu LY, Benn PA, Tannenbaum HL, Perus TE, Carlson AD. Chromosomal polymorphisms of 1, 9, 16, and Y in 4 major ethnic groups: a large prenatal study. Am J Med Genet 1987;26:95-101.
    • (1987) Am J Med Genet , vol.26 , pp. 95-101
    • Hsu, L.Y.1    Benn, P.A.2    Tannenbaum, H.L.3    Perus, T.E.4    Carlson, A.D.5
  • 7
    • 0026321397 scopus 로고
    • Report of the Committee on the Genetic Constitution of Chromosome 22
    • Emanuel BS, Budarf ML, Seizinger BR. Report of the Committee on the Genetic Constitution of Chromosome 22. Cytogenet Cell Genet 1991;58:1-26.
    • (1991) Cytogenet Cell Genet , vol.58 , pp. 1-26
    • Emanuel, B.S.1    Budarf, M.L.2    Seizinger, B.R.3
  • 11
    • 0028958734 scopus 로고
    • De novo tandem duplication of chromosome segment 22q11-q12: Clinical, cytogenetic, and molecular characterization
    • Lindsay EA, Shaffer LG, Carrozzo R, Greenberg F, Baldini A. De novo tandem duplication of chromosome segment 22q11-q12: clinical, cytogenetic, and molecular characterization. Am J Med Genet 1995;56:296-9.
    • (1995) Am J Med Genet , vol.56 , pp. 296-299
    • Lindsay, E.A.1    Shaffer, L.G.2    Carrozzo, R.3    Greenberg, F.4    Baldini, A.5
  • 13
    • 0030741279 scopus 로고    scopus 로고
    • CATCH 22: Deletion of locus 22q11 in velocardiofacial syndrome, DiGeorge anomaly, and nonsyndromic conotruncal defects
    • Hou JW, Wang PJ, Tsai WY, Chou CC, Wang TR. CATCH 22: deletion of locus 22q11 in velocardiofacial syndrome, DiGeorge anomaly, and nonsyndromic conotruncal defects. J Formos Med Assoc 1997;96:419-23.
    • (1997) J Formos Med Assoc , vol.96 , pp. 419-423
    • Hou, J.W.1    Wang, P.J.2    Tsai, W.Y.3    Chou, C.C.4    Wang, T.R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.