메뉴 건너뛰기




Volumn 146, Issue 11, 2008, Pages 1395-1405

Low-level mosaicism of trisomy 14: Phenotypic and molecular characterization

Author keywords

Array CGH; Developmental delay; Dysmorphism; Growth restriction; Mosaicism; Trisomy 14

Indexed keywords

ARTICLE; CHROMOSOME MOSAICISM; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FACE DYSMORPHIA; FEMALE; GROWTH RETARDATION; HUMAN; INFANT; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN DEFECT; SKIN PIGMENTATION; TRISOMY 14 MOSAICISM;

EID: 44449112745     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32287     Document Type: Article
Times cited : (33)

References (31)
  • 2
    • 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
  • 7
    • 0019995804 scopus 로고
    • Mosaic trisomies in human spontaneous abortions
    • Hassold T. 1982. Mosaic trisomies in human spontaneous abortions. Hum Genet 61:31-35.
    • (1982) Hum Genet , vol.61 , pp. 31-35
    • Hassold, T.1
  • 9
    • 0018630206 scopus 로고
    • Trisomy 14 mosaicism: Case report and review
    • Johnson VP, Aceto T, Likness C. 1979. Trisomy 14 mosaicism: Case report and review. Am J Med Genet 3:331-339.
    • (1979) Am J Med Genet , vol.3 , pp. 331-339
    • Johnson, V.P.1    Aceto, T.2    Likness, C.3
  • 11
    • 0032918058 scopus 로고    scopus 로고
    • Screening of human placentas for chromosomal mosaicism using comparative genomic hybridization
    • Lestou VS, Lomax BL, Barrett IJ, Kalousek DK. 1999. Screening of human placentas for chromosomal mosaicism using comparative genomic hybridization. Teratology 59:325-330.
    • (1999) Teratology , vol.59 , pp. 325-330
    • Lestou, V.S.1    Lomax, B.L.2    Barrett, I.J.3    Kalousek, D.K.4
  • 13
    • 0030958069 scopus 로고    scopus 로고
    • Linear hypopigmentation and hyperpigmentation, including mosaicism
    • Loomis CA. 1997. Linear hypopigmentation and hyperpigmentation, including mosaicism. Semin Cutan Med Surg 16:44-53.
    • (1997) Semin Cutan Med Surg , vol.16 , pp. 44-53
    • Loomis, C.A.1
  • 15
    • 1642568673 scopus 로고    scopus 로고
    • Trisomy 14 mosaicism: A case report and review of the literature
    • Lynch MF, Fernandes CJ, Shaffer LG, Potocki L. 2004. Trisomy 14 mosaicism: A case report and review of the literature. J Perinatol 24:121-123.
    • (2004) J Perinatol , vol.24 , pp. 121-123
    • Lynch, M.F.1    Fernandes, C.J.2    Shaffer, L.G.3    Potocki, L.4
  • 18
    • 35449006277 scopus 로고    scopus 로고
    • Trisomy 14 mosaicism: A case without evidence of neurodevelopmental delay and a review of the literature
    • Merritt TA, Natarajan G. 2007. Trisomy 14 mosaicism: A case without evidence of neurodevelopmental delay and a review of the literature. Am J Perinatol 24:563-566.
    • (2007) Am J Perinatol , vol.24 , pp. 563-566
    • Merritt, T.A.1    Natarajan, G.2
  • 21
    • 0026576283 scopus 로고
    • Failure of PHA-stimulated i(12p) lymphocytes to divide in Pallister-Killian syndrome
    • Reeser SL, Wenger SL. 1992. Failure of PHA-stimulated i(12p) lymphocytes to divide in Pallister-Killian syndrome. Am J Med Genet 42:815-819.
    • (1992) Am J Med Genet , vol.42 , pp. 815-819
    • Reeser, S.L.1    Wenger, S.L.2
  • 22
    • 2442666390 scopus 로고    scopus 로고
    • Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages
    • Schaeffer AJ, Chung J, Heretis K, Wong A, Ledbetter DH, Lese Martin C. 2004. Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages. Am J Hum Genet 74:1168-1174.
    • (2004) Am J Hum Genet , vol.74 , pp. 1168-1174
    • Schaeffer, A.J.1    Chung, J.2    Heretis, K.3    Wong, A.4    Ledbetter, D.H.5    Lese Martin, C.6
  • 23
    • 0031807478 scopus 로고    scopus 로고
    • Twin pregnancy discordant for trisomy 14 mosaicism: Prenatal sonographic findings
    • Sepulveda W, Monckeberg MJ, Be C. 1998. Twin pregnancy discordant for trisomy 14 mosaicism: Prenatal sonographic findings. Prenat Diagn 18:481-484.
    • (1998) Prenat Diagn , vol.18 , pp. 481-484
    • Sepulveda, W.1    Monckeberg, M.J.2    Be, C.3
  • 24
    • 0017863156 scopus 로고
    • Kinetics of 21-trisomic lymphocytes. I. In vitro response of 21-trisomic lymphocytes to PHA
    • Serra A, Arpaia E, Bova R. 1978. Kinetics of 21-trisomic lymphocytes. I. In vitro response of 21-trisomic lymphocytes to PHA. Hum Genet 41:157-167.
    • (1978) Hum Genet , vol.41 , pp. 157-167
    • Serra, A.1    Arpaia, E.2    Bova, R.3
  • 25
    • 33746167778 scopus 로고    scopus 로고
    • Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
    • Shaffer LG, Kashork CD, Saleki R, Rorem E, Sundin K, Ballif BC, Bejjani BA. 2006. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 149:98-102.
    • (2006) J Pediatr , vol.149 , pp. 98-102
    • Shaffer, L.G.1    Kashork, C.D.2    Saleki, R.3    Rorem, E.4    Sundin, K.5    Ballif, B.C.6    Bejjani, B.A.7
  • 26
    • 1242269840 scopus 로고    scopus 로고
    • Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders
    • Shaw CJ, Shaw CA, Yu W, Stankiewicz P, White LD, Beaudet AL, Lupski JR. 2004. Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders. J Med Genet 41:113-119.
    • (2004) J Med Genet , vol.41 , pp. 113-119
    • Shaw, C.J.1    Shaw, C.A.2    Yu, W.3    Stankiewicz, P.4    White, L.D.5    Beaudet, A.L.6    Lupski, J.R.7
  • 27
    • 0025278925 scopus 로고
    • Pigmentary abnormalities and mosaicism for chromosomal aberration: Association with clinical features similar to hypomelanosis of Ito
    • Sybert VP, Pagon RA, Donlan M, Bradley CM. 1990. Pigmentary abnormalities and mosaicism for chromosomal aberration: Association with clinical features similar to hypomelanosis of Ito. J Pediatr 116:581-586.
    • (1990) J Pediatr , vol.116 , pp. 581-586
    • Sybert, V.P.1    Pagon, R.A.2    Donlan, M.3    Bradley, C.M.4
  • 28
    • 4544268599 scopus 로고    scopus 로고
    • Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: The role of pigmentary genes
    • Taibjee SM, Bennett DC, Moss C. 2004. Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: The role of pigmentary genes. Br J Dermatol 151:269-282.
    • (2004) Br J Dermatol , vol.151 , pp. 269-282
    • Taibjee, S.M.1    Bennett, D.C.2    Moss, C.3
  • 29
    • 0034067293 scopus 로고    scopus 로고
    • Hypomelanosis of ito and a 'mirror image' whole chromosome duplication resulting in trisomy 14 mosaicism
    • Tunca Y, Wilroy RS, Kadandale JS, Martens PR, Gunther WM, Tharapel AT. 2000. Hypomelanosis of ito and a 'mirror image' whole chromosome duplication resulting in trisomy 14 mosaicism. Ann Genet 43:39-43.
    • (2000) Ann Genet , vol.43 , pp. 39-43
    • Tunca, Y.1    Wilroy, R.S.2    Kadandale, J.S.3    Martens, P.R.4    Gunther, W.M.5    Tharapel, A.T.6
  • 30
    • 0036789093 scopus 로고    scopus 로고
    • Mechanisms and consequences of somatic mosaicism in humans
    • Youssoufian H, Pyeritz RE. 2002. Mechanisms and consequences of somatic mosaicism in humans. Nat Rev Genet 3:748-758.
    • (2002) Nat Rev Genet , vol.3 , pp. 748-758
    • Youssoufian, H.1    Pyeritz, R.E.2
  • 31
    • 0027937004 scopus 로고
    • Nondisjunction of human acrocentric chromosomes: Studies of 432 trisomic fetuses and liveborns
    • Zaragoza MV, Jacobs PA, James RS, Rogan P, Sherman S, Hassold T. 1994. Nondisjunction of human acrocentric chromosomes: Studies of 432 trisomic fetuses and liveborns. Hum Genet 94:411-417.
    • (1994) Hum Genet , vol.94 , pp. 411-417
    • Zaragoza, M.V.1    Jacobs, P.A.2    James, R.S.3    Rogan, P.4    Sherman, S.5    Hassold, T.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.