메뉴 건너뛰기




Volumn 16, Issue 8, 1996, Pages 734-740

Trisomy 12/monosomy x/normal female mosaicism: Prenatal detection and confirmation in a liveborn

Author keywords

Mosaicism; Trisomy 12; Turner syndrome

Indexed keywords

AMNIOCENTESIS; AMNION; ARTICLE; CASE REPORT; CELL LINE; CELL TYPE; CHORION VILLUS; COGNITIVE DEVELOPMENT; FEMALE; FOLLOW UP; HUMAN; KARYOTYPE 45,X; KARYOTYPE 46,XX; MATERNAL AGE; MONOSOMY X; MOSAICISM; MOTOR DEVELOPMENT; MUSCLE HYPOTONIA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TRISOMY; TURNER SYNDROME; UMBILICAL CORD; UMBILICAL CORD BLOOD;

EID: 0029803313     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199608)16:8<734::AID-PD928>3.0.CO;2-C     Document Type: Article
Times cited : (12)

References (24)
  • 3
    • 0025177372 scopus 로고
    • The phenotype of 45,X/46,XY mosaicism: An analysis of 92 prenatally diagnosed cases
    • Chang, H.J., Clark, R.D., Bachma, H. (1990). The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases, Am. J. Hum. Genet., 46, 156-167.
    • (1990) Am. J. Hum. Genet. , vol.46 , pp. 156-167
    • Chang, H.J.1    Clark, R.D.2    Bachma, H.3
  • 4
    • 0028211039 scopus 로고
    • Trisomy 12 mosaicism in a 7 year old girl with dysmorphic features and normal mental development
    • English, C.J., Goodship, J.A., Jackson, A., Lowry, M., Wolstenholme, J. (1994). Trisomy 12 mosaicism in a 7 year old girl with dysmorphic features and normal mental development, J. Med. Genet., 31, 253-254.
    • (1994) J. Med. Genet. , vol.31 , pp. 253-254
    • English, C.J.1    Goodship, J.A.2    Jackson, A.3    Lowry, M.4    Wolstenholme, J.5
  • 5
    • 0025985201 scopus 로고
    • Trisomy 12 mosaicism
    • Frohlich, G., Falk, R. (1991). Trisomy 12 mosaicism (Letter to the Editor), Prenat. Diagn., 11, 881.
    • (1991) Prenat. Diagn. , vol.11 , pp. 881
    • Frohlich, G.1    Falk, R.2
  • 6
    • 0025615263 scopus 로고
    • Turner syndrome and its variants, current issues in pediatric and adolescent endocrinology
    • Hall, J.G., Gilchrist, D.M. (1990). Turner syndrome and its variants, current issues in pediatric and adolescent endocrinology, Pediatr. Clin. North Am., 37, 1421-1440.
    • (1990) Pediatr. Clin. North Am. , vol.37 , pp. 1421-1440
    • Hall, J.G.1    Gilchrist, D.M.2
  • 7
    • 0002232454 scopus 로고
    • Prenatal diagnosis of chromosomal abnormalities through amniocentesis
    • Milunsky, A. (Ed.). The Johns Hopkins University Press
    • Hsu, L.Y.F. (1992). Prenatal diagnosis of chromosomal abnormalities through amniocentesis. In: Milunsky, A. (Ed.). Genetic Disorders and the Fetus, The Johns Hopkins University Press, 155-210.
    • (1992) Genetic Disorders and the Fetus , pp. 155-210
    • Hsu, L.Y.F.1
  • 8
    • 0028072677 scopus 로고
    • Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases
    • Hsu, L. (1994). Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases, Am. J. Med. Genet., 53, 108-140.
    • (1994) Am. J. Med. Genet. , vol.53 , pp. 108-140
    • Hsu, L.1
  • 9
    • 0021634135 scopus 로고
    • United States survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis
    • Hsu, L.Y.F., Perlis, T.E. (1984). United States survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis, Prenat. Diagn., 4, 97-130.
    • (1984) Prenat. Diagn. , vol.4 , pp. 97-130
    • Hsu, L.Y.F.1    Perlis, T.E.2
  • 12
    • 0029132291 scopus 로고
    • Prenatal diagnosis for 45,X/46,XX mosaicism and 45,X: Implications for postnatal outcome
    • Koeberl, D., McGillivray, B., Sybert, V. (1995). Prenatal diagnosis for 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome, Am. J. Hum. Genet., 57, 661-666.
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 661-666
    • Koeberl, D.1    McGillivray, B.2    Sybert, V.3
  • 13
    • 0023733804 scopus 로고
    • Karyotyping urine sediment cells confirms trisomy 12 mosaicism detected at amniocentesis
    • Leschot, N., Wilmsen-Linders, E., van Guijn, H., Samson, J., Smit, L. (1988). Karyotyping urine sediment cells confirms trisomy 12 mosaicism detected at amniocentesis, Clin. Genet., 34, 135-139.
    • (1988) Clin. Genet. , vol.34 , pp. 135-139
    • Leschot, N.1    Wilmsen-Linders, E.2    Van Guijn, H.3    Samson, J.4    Smit, L.5
  • 14
    • 0028095244 scopus 로고
    • Prenatal diagnosis of trisomy 12 mosaicism: Physical and developmental follow-up
    • Meck, J., Kozma, C., Tehabo, J., King, J., Lencki, S., Pinchert, T. (1994). Prenatal diagnosis of trisomy 12 mosaicism: physical and developmental follow-up, Prenat. Diagn., 14, 878-883.
    • (1994) Prenat. Diagn. , vol.14 , pp. 878-883
    • Meck, J.1    Kozma, C.2    Tehabo, J.3    King, J.4    Lencki, S.5    Pinchert, T.6
  • 16
    • 0020574234 scopus 로고
    • First report of mosaic trisomy 12 in a liveborn individual
    • Patil, S., Bosch, E., Hanson, J. (1983). First report of mosaic trisomy 12 in a liveborn individual, Am. J. Med. Genet., 14, 453-460.
    • (1983) Am. J. Med. Genet. , vol.14 , pp. 453-460
    • Patil, S.1    Bosch, E.2    Hanson, J.3
  • 17
    • 0025687711 scopus 로고
    • Trisomy 12 mosaicism detected by mid-trimester amniocentesis
    • Petrella, R., Hirshborn, R. (1990). Trisomy 12 mosaicism detected by mid-trimester amniocentesis, Prenat. Diagn., 10, 781-785.
    • (1990) Prenat. Diagn. , vol.10 , pp. 781-785
    • Petrella, R.1    Hirshborn, R.2
  • 20
    • 0024328319 scopus 로고
    • Trisomy 12 mosaicism in amniocytes and dysmorphic child despite normal chromosomes in fetal blood sample
    • Von Koskull, H., Ritvanen, A., Ammälä, P., Gahmberg, N., Salonen, R. (1989). Trisomy 12 mosaicism in amniocytes and dysmorphic child despite normal chromosomes in fetal blood sample, Prenat. Diagn., 9, 433-437.
    • (1989) Prenat. Diagn. , vol.9 , pp. 433-437
    • Von Koskull, H.1    Ritvanen, A.2    Ammälä, P.3    Gahmberg, N.4    Salonen, R.5
  • 21
    • 0004735719 scopus 로고
    • Trisomy 16 and 12 confined chorionic mosaicism in liveborn infants with multiple anomalies
    • Watson, J.D., Ward, B.E., Peakman, D., Henry, G. (1988). Trisomy 16 and 12 confined chorionic mosaicism in liveborn infants with multiple anomalies, Am. J. Hum. Genet., 43 (Suppl.), A252.
    • (1988) Am. J. Hum. Genet. , vol.43 , Issue.SUPPL.
    • Watson, J.D.1    Ward, B.E.2    Peakman, D.3    Henry, G.4
  • 22
    • 0023905065 scopus 로고
    • 45,X/46,XY mosaicism: Contrast of prenatal and postnatal diagnosis
    • Wheeler, M., Peakman, D., Robinson, A., Henry, G. (1988). 45,X/46,XY mosaicism: contrast of prenatal and postnatal diagnosis, Am. J. Med. Genet., 29, 565-571.
    • (1988) Am. J. Med. Genet. , vol.29 , pp. 565-571
    • Wheeler, M.1    Peakman, D.2    Robinson, A.3    Henry, G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.