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Volumn 118 A, Issue 1, 2003, Pages 60-63

Prenatal diagnosis of a trisomy 7/maternal uniparental heterodisomy 7 mosaic fetus

Author keywords

Amniocentesis; Mosaicism; Prenatal diagnosis; Triple marker screen; Trisomy 7; Uniparental disomy

Indexed keywords

ADULT; AMNIOCENTESIS; ARTICLE; CASE REPORT; CELL LINEAGE; CHORION VILLUS; CHROMOSOME LOSS; CHROMOSOME PAIRING; CHROMOSOME SEGREGATION; FEMALE; FETUS; HUMAN; LETHALITY; MOSAICISM; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TRISOMY 7; UMBILICAL CORD BLOOD; UNIPARENTAL DISOMY;

EID: 0042320922     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10101     Document Type: Article
Times cited : (24)

References (10)
  • 2
    • 0026741249 scopus 로고
    • Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies
    • Hsu L, Kaffe S, Jenkins E, Alonso L, Benn P, David K, Hirschhorn K, Lieber E, Shanske A, Shapiro L. 1992. Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies. Prenat Diagn 12:555-573.
    • (1992) Prenat Diagn , vol.12 , pp. 555-573
    • Hsu, L.1    Kaffe, S.2    Jenkins, E.3    Alonso, L.4    Benn, P.5    David, K.6    Hirschhorn, K.7    Lieber, E.8    Shanske, A.9    Shapiro, L.10
  • 6
    • 0028867372 scopus 로고
    • Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7
    • Langlois S, Young S, Wilson R, Kwong L, Kalousek D. 1995. Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7. J Med Genet 32:871-875.
    • (1995) J Med Genet , vol.32 , pp. 871-875
    • Langlois, S.1    Young, S.2    Wilson, R.3    Kwong, L.4    Kalousek, D.5
  • 7
    • 0034119613 scopus 로고    scopus 로고
    • Formation of uniparental disomy delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature
    • Mergenthaler S, Wollman H, Burger B, Eggerman K, Kaiser P, Ranke M, Schwanitz G, Eggerman T. 2000. Formation of uniparental disomy delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature. Annales de Genetique 43:15-21.
    • (2000) Annales de Genetique , vol.43 , pp. 15-21
    • Mergenthaler, S.1    Wollman, H.2    Burger, B.3    Eggerman, K.4    Kaiser, P.5    Ranke, M.6    Schwanitz, G.7    Eggerman, T.8
  • 9
    • 0026749549 scopus 로고
    • Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COLIA2 locus
    • Spotila L, Sereda L, Prockop D. 1992. Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COLIA2 locus. Am J Hum Genet 51:1386-1405.
    • (1992) Am J Hum Genet , vol.51 , pp. 1386-1405
    • Spotila, L.1    Sereda, L.2    Prockop, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.