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Volumn 49, Issue 4, 1996, Pages 216-219

Multiple congenital malformations in an infant prenatally diagnosed with mosaicism for dup(1q) and del(Xq)

Author keywords

Dandy Walker malformation; Partial trisomy 1; Prenatal diagnosis

Indexed keywords

AMNIOCENTESIS; ARTICLE; CASE REPORT; CHROMOSOME 1Q; CHROMOSOME DELETION X; CHROMOSOME DUPLICATION; CHROMOSOME MOSAICISM; CHROMOSOME XQ; CONGENITAL MALFORMATION; DANDY WALKER SYNDROME; DEATH; ECHOGRAPHY; FACE DYSMORPHIA; FEMALE; FETUS; HUMAN; HUMAN CELL; HYDROCEPHALUS; LUNG HYPOPLASIA; NEWBORN; PARTIAL TRISOMY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS;

EID: 0029975283     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1996.tb03290.x     Document Type: Article
Times cited : (7)

References (10)
  • 1
    • 0023872273 scopus 로고
    • Fetal blood sampling in investigation of chromosome mosaicism in amniotic fluid cell culture
    • Gosden CM, Nicolaides KH, Rodeck CH. Fetal blood sampling in investigation of chromosome mosaicism in amniotic fluid cell culture. Lancet 1988: i: 613-617.
    • (1988) Lancet , vol.1 , pp. 613-617
    • Gosden, C.M.1    Nicolaides, K.H.2    Rodeck, C.H.3
  • 2
    • 0021634135 scopus 로고
    • United States Survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis
    • Hsu LYF, Perlis TE. United States Survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis. Prenat Diagn 1984: 4: 97-130.
    • (1984) Prenat Diagn , vol.4 , pp. 97-130
    • Hsu, L.Y.F.1    Perlis, T.E.2
  • 3
    • 0023180628 scopus 로고
    • Tandem duplication (1)(q11→q22) in a male infant with multiple congenital malformations
    • Mertens F, Johansson B, Forslund M, Olssan M, Kristofferson V. Tandem duplication (1)(q11→q22) in a male infant with multiple congenital malformations. Clin Genet 1987: 32: 46-48.
    • (1987) Clin Genet , vol.32 , pp. 46-48
    • Mertens, F.1    Johansson, B.2    Forslund, M.3    Olssan, M.4    Kristofferson, V.5
  • 4
    • 0023872661 scopus 로고
    • Monosomy, trisomy, fragile sites and rearrangements of chromosome number 1 in a mentally retarded male with multiple congenital anomalies
    • Neu RL, Kousseff BE, Madan S, Essig YP, Miller K, Tedesco TA. Monosomy, trisomy, fragile sites and rearrangements of chromosome number 1 in a mentally retarded male with multiple congenital anomalies. Clin Genet 1988: 33: 73-77.
    • (1988) Clin Genet , vol.33 , pp. 73-77
    • Neu, R.L.1    Kousseff, B.E.2    Madan, S.3    Essig, Y.P.4    Miller, K.5    Tedesco, T.A.6
  • 7
    • 0025315275 scopus 로고
    • The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: A hypothesis
    • Therman E, Susman B. The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis. Hum Genet 1990: 85: 175-183.
    • (1990) Hum Genet , vol.85 , pp. 175-183
    • Therman, E.1    Susman, B.2
  • 10
    • 0021135603 scopus 로고
    • A Canadian collaborative study of mosaicism in amniotic fluid cell cultures
    • Worton RG, Stein R. A Canadian collaborative study of mosaicism in amniotic fluid cell cultures. Prenat Diagn 1984: 4: 131-144.
    • (1984) Prenat Diagn , vol.4 , pp. 131-144
    • Worton, R.G.1    Stein, R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.