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Volumn 155, Issue 2, 2011, Pages 434-438

Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH

Author keywords

[No Author keywords available]

Indexed keywords

AMNIOCENTESIS; ANUS ATRESIA; CASE REPORT; CESAREAN SECTION; CHROMOSOME 22; CHROMOSOME G BAND; CHROMOSOME INVERSION 9; CHROMOSOME TRANSLOCATION 11; CHROMOSOME TRANSLOCATION 13; CLEFT PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; COPY NUMBER VARIATION; DIAPHRAGM HERNIA; ENDOTRACHEAL INTUBATION; EXTERNAL EAR MALFORMATION; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INTRAUTERINE GROWTH RETARDATION; IRIS COLOBOMA; KARYOTYPE 46,XY; LETTER; MALE; MICROGNATHIA; MUSCLE HYPOTONIA; NEWBORN; NEWBORN DEATH; OLIGOHYDRAMNIOS; PERICARDIAL EFFUSION; PRIORITY JOURNAL; PYELECTASIS; TRISOMY; TRISOMY 11; TRISOMY 13; TRISOMY 22;

EID: 79251517761     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33792     Document Type: Letter
Times cited : (8)

References (15)
  • 1
    • 0028926083 scopus 로고
    • Clinical and molecular studies in full trisomy 22: Further delineation of the phenotype and review of the literature
    • Bacino CA, Schreck R, Fischel-Ghodsian N, Pepkowitz S, Prezant TR, Graham JM Jr. 1995. Clinical and molecular studies in full trisomy 22: Further delineation of the phenotype and review of the literature. Am J Med Genet 56: 359-365.
    • (1995) Am J Med Genet , vol.56 , pp. 359-365
    • Bacino, C.A.1    Schreck, R.2    Fischel-Ghodsian, N.3    Pepkowitz, S.4    Prezant, T.R.5    Graham Jr, J.M.6
  • 3
    • 34247100199 scopus 로고    scopus 로고
    • Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH
    • Ballif BC, Hornor SA, Sulpizio SG, Lloyd RM, Minier SL, Rorem EA, Theisen A, Bejjani BA, Shaffer LG. 2007. Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH. Genet Med 9: 150-162.
    • (2007) Genet Med , vol.9 , pp. 150-162
    • Ballif, B.C.1    Hornor, S.A.2    Sulpizio, S.G.3    Lloyd, R.M.4    Minier, S.L.5    Rorem, E.A.6    Theisen, A.7    Bejjani, B.A.8    Shaffer, L.G.9
  • 5
    • 11844255395 scopus 로고    scopus 로고
    • Mosaic trisomy 22: Report of a patient with normal intelligence
    • Florez L, Lacassie Y. 2005. Mosaic trisomy 22: Report of a patient with normal intelligence. Am J Med Genet Part A 132A: 223-225.
    • (2005) Am J Med Genet Part A , vol.132 A , pp. 223-225
    • Florez, L.1    Lacassie, Y.2
  • 6
    • 0029781601 scopus 로고    scopus 로고
    • A 13-year cytogenetic study of spontaneous abortion: Clinical applications of testing
    • Ford JH, Wilkin HZ, Thomas P, McCarthy C. 1996. A 13-year cytogenetic study of spontaneous abortion: Clinical applications of testing. Aust N Z J Obstet Gynaecol 36: 314-318.
    • (1996) Aust N Z J Obstet Gynaecol , vol.36 , pp. 314-318
    • Ford, J.H.1    Wilkin, H.Z.2    Thomas, P.3    McCarthy, C.4
  • 7
    • 0003815152 scopus 로고    scopus 로고
    • Chromosome abnormalities and genetic counseling
    • New York: Oxford University Press (xviii, 574p of plates p).
    • Gardner RJM, Sutherland GR. 2004. Chromosome abnormalities and genetic counseling. New York: Oxford University Press (xviii, 577p, 574p of plates p).
    • (2004) , pp. 577
    • Gardner, R.J.M.1    Sutherland, G.R.2
  • 9
    • 75649102496 scopus 로고    scopus 로고
    • Mosaic trisomy 22: Five new cases with variable outcomes. Implications for genetic counselling and clinical management
    • Leclercq S, Baron X, Jacquemont ML, Cuillier F, Cartault F. 2010. Mosaic trisomy 22: Five new cases with variable outcomes. Implications for genetic counselling and clinical management. Prenat Diagn 30: 168-172.
    • (2010) Prenat Diagn , vol.30 , pp. 168-172
    • Leclercq, S.1    Baron, X.2    Jacquemont, M.L.3    Cuillier, F.4    Cartault, F.5
  • 12
    • 77149174814 scopus 로고    scopus 로고
    • Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization
    • Scott SA, Cohen N, Brandt T, Toruner G, Desnick RJ, Edelmann L. 2010. Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization. Genet Med 12: 85-92.
    • (2010) Genet Med , vol.12 , pp. 85-92
    • Scott, S.A.1    Cohen, N.2    Brandt, T.3    Toruner, G.4    Desnick, R.J.5    Edelmann, L.6
  • 13
    • 27744491053 scopus 로고    scopus 로고
    • Prenatal sonographic findings in trisomy 22: Five case reports and review of the literature
    • Stressig R, Kortge-Jung S, Hickmann G, Kozlowski P. 2005. Prenatal sonographic findings in trisomy 22: Five case reports and review of the literature. J Ultrasound Med 24: 1547-1553.
    • (2005) J Ultrasound Med , vol.24 , pp. 1547-1553
    • Stressig, R.1    Kortge-Jung, S.2    Hickmann, G.3    Kozlowski, P.4
  • 14
    • 35948990486 scopus 로고    scopus 로고
    • Prenatally diagnosed mosaic trisomy 22 in a fetus with left ventricular non-compaction cardiomyopathy
    • Wang JC, Dang L, Mondal TK, Khan A. 2007. Prenatally diagnosed mosaic trisomy 22 in a fetus with left ventricular non-compaction cardiomyopathy. Am J Med Genet Part A 143A: 2744-2746.
    • (2007) Am J Med Genet Part A , vol.143 A , pp. 2744-2746
    • Wang, J.C.1    Dang, L.2    Mondal, T.K.3    Khan, A.4
  • 15
    • 79251507998 scopus 로고
    • Birth defects encyclopaedia
    • In: Buyse ML, editor. Malden, MA: Blackwell Science.
    • Wertelecki W. 1990. Chromosome 22, trisomy mosaicism. In: Buyse ML, editor. Birth defects encyclopaedia. Malden, MA: Blackwell Science. p 395.
    • (1990) Chromosome 22, trisomy mosaicism , pp. 395
    • Wertelecki, W.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.