메뉴 건너뛰기




Volumn 49, Issue 3, 2010, Pages 333-340

Mosaic Trisomy 7 at Amniocentesis: Prenatal Diagnosis and Molecular Genetic Analyses

Author keywords

Amniocentesis; Mosaic trisomy 7; Mosaicism; Trisomy 7; Uniparental disomy for chromosome 7

Indexed keywords

ADULT; AMNIOCENTESIS; AMNION CELL; ARTICLE; CASE REPORT; CHORION VILLUS; CHROMOSOME 7; CORDOCENTESIS; ECHOGRAPHY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ANALYSIS; HUMAN; HYPOPIGMENTATION; INGUINAL HERNIA; MOLECULAR GENETICS; MOSAICISM; PRENATAL DIAGNOSIS; TRISOMY 7;

EID: 78149356724     PISSN: 10284559     EISSN: 10284559     Source Type: Journal    
DOI: 10.1016/S1028-4559(10)60070-8     Document Type: Article
Times cited : (14)

References (34)
  • 3
    • 77953271696 scopus 로고    scopus 로고
    • Prenatal diagnosis and genetic counseling for mosaic trisomy 13
    • Chen CP Prenatal diagnosis and genetic counseling for mosaic trisomy 13. Taiwan J Obstet Gynecol 2010, 49:13-22.
    • (2010) Taiwan J Obstet Gynecol , vol.49 , pp. 13-22
    • Chen, C.P.1
  • 7
    • 0027203993 scopus 로고
    • Hypomelanosis of Ito associated with mosaicism for trisomy 7 and apparent 'pseudo-mosaicism' at amniocentesis
    • Jenkins D, Martin K, Young ID Hypomelanosis of Ito associated with mosaicism for trisomy 7 and apparent 'pseudo-mosaicism' at amniocentesis. J Med Genet 1993, 30:783-784.
    • (1993) J Med Genet , vol.30 , pp. 783-784
    • Jenkins, D.1    Martin, K.2    Young, I.D.3
  • 8
    • 0033455621 scopus 로고    scopus 로고
    • Mosaic trisomy 7 in a patient with pigmentary abnormalities
    • Verghese S, Newlin A, Miller M, Burton BK Mosaic trisomy 7 in a patient with pigmentary abnormalities. Am J Med Genet 1999, 87:371-374.
    • (1999) Am J Med Genet , vol.87 , pp. 371-374
    • Verghese, S.1    Newlin, A.2    Miller, M.3    Burton, B.K.4
  • 9
    • 0042320922 scopus 로고    scopus 로고
    • Prenatal diagnosis of a tri-somy 7/maternal uniparental heterodisomy 7 mosaic fetus
    • Bilimoria KY, Rothenberg JM Prenatal diagnosis of a tri-somy 7/maternal uniparental heterodisomy 7 mosaic fetus. Am J Med Genet 2003, 118A:60-63.
    • (2003) Am J Med Genet , vol.118 A , pp. 60-63
    • Bilimoria, K.Y.1    Rothenberg, J.M.2
  • 10
    • 27244438057 scopus 로고    scopus 로고
    • Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome
    • Flori E, Girodon E, Samama B, et al. Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome. Eur J Hum Genet 2005, 13:1013-1018.
    • (2005) Eur J Hum Genet , vol.13 , pp. 1013-1018
    • Flori, E.1    Girodon, E.2    Samama, B.3
  • 11
    • 13244249913 scopus 로고    scopus 로고
    • Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis
    • Donaghue C, Mann K, Cherry Z, Ogilvie CM Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis. Prenat Diagn 2005, 25:65-72.
    • (2005) Prenat Diagn , vol.25 , pp. 65-72
    • Donaghue, C.1    Mann, K.2    Cherry, Z.3    Ogilvie, C.M.4
  • 12
    • 0030973681 scopus 로고    scopus 로고
    • Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20 and 21: karyotype/phenotype correlations
    • Hsu LYF, Yu M-T, Neu RL, et al. Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20 and 21: karyotype/phenotype correlations. Prenat Diagn 1997, 17:201-242.
    • (1997) Prenat Diagn , vol.17 , pp. 201-242
    • Hsu, L.Y.F.1    Yu, M.-T.2    Neu, R.L.3
  • 13
    • 0035990103 scopus 로고    scopus 로고
    • Prenatally detected trisomy 7 mosaicism in a dysmorphic child
    • Kivirikko S, Salonen R, Salo A, von Koskull H Prenatally detected trisomy 7 mosaicism in a dysmorphic child. Prenat Diagn 2002, 22:541-544.
    • (2002) Prenat Diagn , vol.22 , pp. 541-544
    • Kivirikko, S.1    Salonen, R.2    Salo, A.3    von Koskull, H.4
  • 14
    • 28544436461 scopus 로고    scopus 로고
    • Prenatal diagnosis of low-level mosaic trisomy 7 by amniocentesis
    • Chen CP, Chern SR, Chen LF, Chen WL, Wang W Prenatal diagnosis of low-level mosaic trisomy 7 by amniocentesis. Prenat Diagn 2005, 24:1067-1069.
    • (2005) Prenat Diagn , vol.24 , pp. 1067-1069
    • Chen, C.P.1    Chern, S.R.2    Chen, L.F.3    Chen, W.L.4    Wang, W.5
  • 15
    • 0034113750 scopus 로고    scopus 로고
    • Maternal uniparental disomy 7-review and further delineation of the phenotype
    • Kotzot D, Balmer D, Baumer A, et al. Maternal uniparental disomy 7-review and further delineation of the phenotype. Eur J Pediatr 2000, 159:247-256.
    • (2000) Eur J Pediatr , vol.159 , pp. 247-256
    • Kotzot, D.1    Balmer, D.2    Baumer, A.3
  • 16
    • 22144446038 scopus 로고    scopus 로고
    • Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated
    • Kotzot D, Utermann G Uniparental disomy (UPD) other than 15: Phenotypes and bibliography updated. Am J Med Genet 2005, 136A:287-305.
    • (2005) Am J Med Genet , vol.136 A , pp. 287-305
    • Kotzot, D.1    Utermann, G.2
  • 17
    • 0028111681 scopus 로고
    • Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea
    • Höglund P, Holmberg C, de la Chapelle A, Kere J Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. Am J Hum Genet 1994, 55:747-752.
    • (1994) Am J Hum Genet , vol.55 , pp. 747-752
    • Höglund, P.1    Holmberg, C.2    de la Chapelle, A.3    Kere, J.4
  • 20
    • 0034119613 scopus 로고    scopus 로고
    • Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature
    • Mergenthaler S, Wollmann HA, Burger B, et al. Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature. Ann Genet 2000, 43:15-21.
    • (2000) Ann Genet , vol.43 , pp. 15-21
    • Mergenthaler, S.1    Wollmann, H.A.2    Burger, B.3
  • 21
    • 0035216758 scopus 로고    scopus 로고
    • Post-zygotic origin of complete maternal chromosome 7 isodisomy and consequent loss of placental PEG1/MEST expression
    • Miozzo M, Grati FR, Bulfamante G, et al. Post-zygotic origin of complete maternal chromosome 7 isodisomy and consequent loss of placental PEG1/MEST expression. Placenta 2001, 22:813-821.
    • (2001) Placenta , vol.22 , pp. 813-821
    • Miozzo, M.1    Grati, F.R.2    Bulfamante, G.3
  • 22
    • 0032758850 scopus 로고
    • The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria
    • Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J Med Genet 1990, 36:837-842.
    • (1990) J Med Genet , vol.36 , pp. 837-842
    • Price, S.M.1    Stanhope, R.2    Garrett, C.3    Preece, M.A.4    Trembath, R.C.5
  • 23
    • 50549093173 scopus 로고    scopus 로고
    • Maternal uniparental disomy 7 and Silver-Russell syndrome-clinical update and comparison with other subgroups
    • Kotzot D Maternal uniparental disomy 7 and Silver-Russell syndrome-clinical update and comparison with other subgroups. Eur J Med Genet 2008, 51:444-451.
    • (2008) Eur J Med Genet , vol.51 , pp. 444-451
    • Kotzot, D.1
  • 24
    • 38949084820 scopus 로고    scopus 로고
    • Prenatal testing for uniparental disomy: indications and clinical relevance
    • Kotzot D Prenatal testing for uniparental disomy: indications and clinical relevance. Ultrasound Obstet Gynecol 2008, 31:100-105.
    • (2008) Ultrasound Obstet Gynecol , vol.31 , pp. 100-105
    • Kotzot, D.1
  • 25
    • 0036933177 scopus 로고    scopus 로고
    • Trisomy 7 mosaicism: prognosis after prenatal diagnosis
    • Warburton D Trisomy 7 mosaicism: prognosis after prenatal diagnosis. Prenat Diagn 2002, 22:1239-1240.
    • (2002) Prenat Diagn , vol.22 , pp. 1239-1240
    • Warburton, D.1
  • 27
    • 0037534869 scopus 로고    scopus 로고
    • A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7
    • Moore MW, Dietz LG, Tirtorahardjo B, Cotter PD A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7. Hum Mutat 2003, 21:645-648.
    • (2003) Hum Mutat , vol.21 , pp. 645-648
    • Moore, M.W.1    Dietz, L.G.2    Tirtorahardjo, B.3    Cotter, P.D.4
  • 28
    • 40449105358 scopus 로고    scopus 로고
    • Restriction site-specific methylation studies of imprinted genes with quantitative real-time PCR
    • Bruce S, Hannula-Jouppi K, Lindgren CM, Lipsanen-Nyman M, Kere J Restriction site-specific methylation studies of imprinted genes with quantitative real-time PCR. Clin Chem 2008, 54:491-499.
    • (2008) Clin Chem , vol.54 , pp. 491-499
    • Bruce, S.1    Hannula-Jouppi, K.2    Lindgren, C.M.3    Lipsanen-Nyman, M.4    Kere, J.5
  • 29
    • 0031172451 scopus 로고    scopus 로고
    • Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methy-lation in fetuses
    • Riesewijk AM, Hu L, Schulz U, et al. Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methy-lation in fetuses. Genomics 1997, 42:236-244.
    • (1997) Genomics , vol.42 , pp. 236-244
    • Riesewijk, A.M.1    Hu, L.2    Schulz, U.3
  • 30
    • 0029114716 scopus 로고
    • Peg1/Mest imprinted gene on chromosome 6 identified by cDNA subtraction hybridization
    • Kaneko-Ishino T, Kuroiwa Y, Miyoshi N, et al. Peg1/Mest imprinted gene on chromosome 6 identified by cDNA subtraction hybridization. Nat Genet 1995, 11:52-59.
    • (1995) Nat Genet , vol.11 , pp. 52-59
    • Kaneko-Ishino, T.1    Kuroiwa, Y.2    Miyoshi, N.3
  • 31
    • 0027439329 scopus 로고
    • A novel mesoderm-specific cDNA isolated from a mouse embryonal carcinoma cell line
    • Sado T, Nakajima N, Tada M, Takagi N A novel mesoderm-specific cDNA isolated from a mouse embryonal carcinoma cell line. Dev Growth Differ 1993, 35:551-560.
    • (1993) Dev Growth Differ , vol.35 , pp. 551-560
    • Sado, T.1    Nakajima, N.2    Tada, M.3    Takagi, N.4
  • 32
    • 0030059812 scopus 로고    scopus 로고
    • Prenatal sonographic features of Russell-Silver syndrome
    • Wax JR, Burroughs R, Wright MS Prenatal sonographic features of Russell-Silver syndrome. J Ultrasound Med 1996, 15:253-255.
    • (1996) J Ultrasound Med , vol.15 , pp. 253-255
    • Wax, J.R.1    Burroughs, R.2    Wright, M.S.3
  • 33
    • 11344285560 scopus 로고    scopus 로고
    • Russell-Silver syndrome: molecular diagnosis of maternal uniparental dis-omy of chromosome 7 using methylation-specific polymerase chain reaction assay and single nucleotide polymorphisms genotyping
    • Chou YY, Chen CC, Kuo PL, Tsai WH, Lin SJ Russell-Silver syndrome: molecular diagnosis of maternal uniparental dis-omy of chromosome 7 using methylation-specific polymerase chain reaction assay and single nucleotide polymorphisms genotyping. J Formos Med Assoc 2004, 103:797-802.
    • (2004) J Formos Med Assoc , vol.103 , pp. 797-802
    • Chou, Y.Y.1    Chen, C.C.2    Kuo, P.L.3    Tsai, W.H.4    Lin, S.J.5
  • 34
    • 21844461364 scopus 로고    scopus 로고
    • Silver-Russell syndrome as a cause for early intrauterine growth restriction
    • Falkert A, Dittmann K, Seelbach-Göbel B Silver-Russell syndrome as a cause for early intrauterine growth restriction. Prenat Diagn 2005, 25:497-501.
    • (2005) Prenat Diagn , vol.25 , pp. 497-501
    • Falkert, A.1    Dittmann, K.2    Seelbach-Göbel, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.