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Volumn 124 A, Issue 4, 2004, Pages 402-406

Two Cases of Tetrasomy 9p Syndrome with Tissue Limited Mosaicism

Author keywords

Isochromosome; Mosaicism; Tetrasomy 9p

Indexed keywords

AMNIOTIC FLUID CELL; BLOOD CULTURE; CASE REPORT; CHORION VILLUS; CHROMOSOME 9P; CHROMOSOME ANALYSIS; CHROMOSOME MOSAICISM; CLINICAL FEATURE; CYTOGENETICS; DIAGNOSTIC ACCURACY; FEMALE; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; HUMAN TISSUE; INFANT; INTRAUTERINE GROWTH RETARDATION; ISOCHROMOSOME; ISOCHROMOSOME 9P; KARYOTYPING; MALE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; REVIEW; SKIN CELL; TETRASOMY; TISSUE SPECIFICITY;

EID: 0942268968     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20447     Document Type: Review
Times cited : (20)

References (27)
  • 3
    • 0023758506 scopus 로고
    • Partial tetrasomy 9 in an infant with clinical and radiological evidence for multiple joint dislocations
    • Calvieri F, Tozzi C, Benincori C, DeMeurulis M, Bellussi A, Genuardi M, Neri G. 1988. Partial tetrasomy 9 in an infant with clinical and radiological evidence for multiple joint dislocations. Eur J Pediatr 147:645-648.
    • (1988) Eur J Pediatr , vol.147 , pp. 645-648
    • Calvieri, F.1    Tozzi, C.2    Benincori, C.3    DeMeurulis, M.4    Bellussi, A.5    Genuardi, M.6    Neri, G.7
  • 6
    • 0031970362 scopus 로고    scopus 로고
    • Isochromosomes 12p and 9p: Parental origin and possible mechanisms of formation
    • Dutly F, Balmer D, Baumer A, Binkert F, Schinzel A. 1998. Isochromosomes 12p and 9p: Parental origin and possible mechanisms of formation. Eur J Hum Genet 6(2):140-144.
    • (1998) Eur J Hum Genet , vol.6 , Issue.2 , pp. 140-144
    • Dutly, F.1    Balmer, D.2    Baumer, A.3    Binkert, F.4    Schinzel, A.5
  • 10
    • 0015857034 scopus 로고
    • Tetrasomie partielle du chromosome 9, à l'état de mosaique, chez un enfant porteur de malformation multiples
    • Ghymers D, Hermann B, Distèche C, Frederic J. 1973. Tetrasomie partielle du chromosome 9, à l'état de mosaique, chez un enfant porteur de malformation multiples. Hum Genet 20:273-282.
    • (1973) Hum Genet , vol.20 , pp. 273-282
    • Ghymers, D.1    Hermann, B.2    Distèche, C.3    Frederic, J.4
  • 14
    • 0029979158 scopus 로고    scopus 로고
    • Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: Case report and comparison with trisomy 9p
    • Leichman L, Zackowski JL, Storto PD, Newlin A. 1996. Non-mosaic tetrasomy 9p in a liveborn infant with multiple congenital anomalies: Case report and comparison with trisomy 9p. Am J Med Genet 63:434-437.
    • (1996) Am J Med Genet , vol.63 , pp. 434-437
    • Leichman, L.1    Zackowski, J.L.2    Storto, P.D.3    Newlin, A.4
  • 16
    • 0018952106 scopus 로고
    • Tetrasomy 9p: Confirmation by enzyme analysis
    • Moedjono S, Crandall B, Sparkes R. 1980. Tetrasomy 9p: Confirmation by enzyme analysis. J Med Genet 17:227-242.
    • (1980) J Med Genet , vol.17 , pp. 227-242
    • Moedjono, S.1    Crandall, B.2    Sparkes, R.3
  • 19
    • 0020345814 scopus 로고
    • Case report of mosaic partial tetrasomy 9p mimicking Klinefelter syndrome
    • Peters J, Pehl C, Miller K, Sandlin C. 1982. Case report of mosaic partial tetrasomy 9p mimicking Klinefelter syndrome. Birth Defects 18:287-293.
    • (1982) Birth Defects , vol.18 , pp. 287-293
    • Peters, J.1    Pehl, C.2    Miller, K.3    Sandlin, C.4
  • 20
    • 0016299657 scopus 로고
    • A presumptive tetrasomy for the short arm of chromosome 9
    • Rutten F, Scheres J, Hustinx T, Haar B. 1974. A presumptive tetrasomy for the short arm of chromosome 9. Hum Genet 25:163-170.
    • (1974) Hum Genet , vol.25 , pp. 163-170
    • Rutten, F.1    Scheres, J.2    Hustinx, T.3    Haar, B.4
  • 21
    • 0025978438 scopus 로고
    • Tetrasomy 9p of the short arm of chromosome 9: Prenatal diagnosis and further delineation of the phenotype
    • Schaefer GB, Domek D, Morgan M, Muneer R, Johnson S. 1991. Tetrasomy 9p of the short arm of chromosome 9: Prenatal diagnosis and further delineation of the phenotype. Am J Med Genet 38:612-615.
    • (1991) Am J Med Genet , vol.38 , pp. 612-615
    • Schaefer, G.B.1    Domek, D.2    Morgan, M.3    Muneer, R.4    Johnson, S.5
  • 23
    • 0030738725 scopus 로고    scopus 로고
    • Moving towards a syndrome: A review of 20 cases and a new case of non-mosaic tetrasomy 9p with long-term survival
    • Tonk VS. 1997. Moving towards a syndrome: A review of 20 cases and a new case of non-mosaic tetrasomy 9p with long-term survival. Clin Genet 52:23-29.
    • (1997) Clin Genet , vol.52 , pp. 23-29
    • Tonk, V.S.1
  • 26
  • 27
    • 0018075386 scopus 로고
    • Partial tetrasomy 9 in a liveborn infant
    • Wisniewski L, Politis G, Higgins J. 1978. Partial tetrasomy 9 in a liveborn infant. Clin Genet 14:147-153.
    • (1978) Clin Genet , vol.14 , pp. 147-153
    • Wisniewski, L.1    Politis, G.2    Higgins, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.