메뉴 건너뛰기




Volumn 444, Issue , 2015, Pages 113-116

Maternal X chromosome copy number variations are associated with discordant fetal sex chromosome aneuploidies detected by noninvasive prenatal testing

Author keywords

Copy number variation; Noninvasive prenatal diagnosis; Sequencing; Sex chromosome aneuploidy; X linked disease

Indexed keywords

AMNIOCENTESIS; ARTICLE; BLOOD SAMPLING; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; DNA SEQUENCE; FEMALE; FETUS; FETUS KARYOTYPING; GENE; GENETIC ASSOCIATION; HUMAN; KARYOTYPE; MALE; NON INVASIVE PROCEDURE; NONINVASIVE PRENATAL TESTING; PREGNANT WOMAN; PRENATAL DIAGNOSIS; SCORING SYSTEM; SEQUENCE ANALYSIS; SEX CHROMOSOME ABERRATION; STS GENE; X CHROMOSOME; X LINKED ICHTHYOSIS; Z SCORE; ANEUPLOIDY; CHROMOSOME DISORDER; GENETICS; PREGNANCY;

EID: 84923048147     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2015.02.014     Document Type: Article
Times cited : (39)

References (19)
  • 1
    • 82355164282 scopus 로고    scopus 로고
    • Sex chromosomes and sex chromosome abnormalities
    • Li X. Sex chromosomes and sex chromosome abnormalities. Clin Lab Med 2011, 31:463-479.
    • (2011) Clin Lab Med , vol.31 , pp. 463-479
    • Li, X.1
  • 2
    • 84866889540 scopus 로고    scopus 로고
    • Genetic considerations in the patient with Turner syndrome-45, X with or without mosaicism
    • Zhong Q., Layman L.C. Genetic considerations in the patient with Turner syndrome-45, X with or without mosaicism. Fertil Steril 2012, 98:775-779.
    • (2012) Fertil Steril , vol.98 , pp. 775-779
    • Zhong, Q.1    Layman, L.C.2
  • 4
    • 34248156426 scopus 로고    scopus 로고
    • Klinefelter syndrome and other sex chromosomal aneuploidies
    • Visootsak J., Graham J.M. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis 2006, 1:42.
    • (2006) Orphanet J Rare Dis , vol.1 , pp. 42
    • Visootsak, J.1    Graham, J.M.2
  • 6
    • 84880038440 scopus 로고    scopus 로고
    • Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population
    • Song Y., Liu C., Qi H., Zhang Y., Bian X., Liu J. Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population. Prenat Diagn 2013, 33:700-706.
    • (2013) Prenat Diagn , vol.33 , pp. 700-706
    • Song, Y.1    Liu, C.2    Qi, H.3    Zhang, Y.4    Bian, X.5    Liu, J.6
  • 7
    • 84896691791 scopus 로고    scopus 로고
    • DNA sequencing versus standard prenatal aneuploidy screening
    • Bianchi D.W., Parker R.L., Wentworth J., et al. DNA sequencing versus standard prenatal aneuploidy screening. N. Engl. J. Med. 2014, 370:799-808.
    • (2014) N. Engl. J. Med. , vol.370 , pp. 799-808
    • Bianchi, D.W.1    Parker, R.L.2    Wentworth, J.3
  • 8
    • 84878152406 scopus 로고    scopus 로고
    • Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma
    • Mazloom A.R., Džakula Ž., Oeth P., et al. Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma. Prenat Diagn 2013, 33:591-597.
    • (2013) Prenat Diagn , vol.33 , pp. 591-597
    • Mazloom, A.R.1    Džakula, Ž.2    Oeth, P.3
  • 9
    • 84880035770 scopus 로고    scopus 로고
    • The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies
    • Canick J.A., Palomaki G.E., Kloza E.M., Lambert-Messerlian G.M., Haddow J.E. The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat Diagn 2013, 33:667-674.
    • (2013) Prenat Diagn , vol.33 , pp. 667-674
    • Canick, J.A.1    Palomaki, G.E.2    Kloza, E.M.3    Lambert-Messerlian, G.M.4    Haddow, J.E.5
  • 10
    • 84878129532 scopus 로고    scopus 로고
    • Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service
    • Lau T.K., Jiang F.M., Stevenson R.J., et al. Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service. Prenat Diagn 2013, 33:602-608.
    • (2013) Prenat Diagn , vol.33 , pp. 602-608
    • Lau, T.K.1    Jiang, F.M.2    Stevenson, R.J.3
  • 11
    • 84897509024 scopus 로고    scopus 로고
    • False-negative trisomy 18 non-invasive prenatal test result due to 48, XXX,+18 placental mosaicism
    • Gao Y., Stejskai D., Jiang F., Wang W. False-negative trisomy 18 non-invasive prenatal test result due to 48, XXX,+18 placental mosaicism. Ultrasound Obstet Gynecol 2014, 43:477-478.
    • (2014) Ultrasound Obstet Gynecol , vol.43 , pp. 477-478
    • Gao, Y.1    Stejskai, D.2    Jiang, F.3    Wang, W.4
  • 12
    • 84891822473 scopus 로고    scopus 로고
    • Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing
    • Wang Y., Chen Y., Tian F., et al. Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing. Clin Chem 2014, 60:251-259.
    • (2014) Clin Chem , vol.60 , pp. 251-259
    • Wang, Y.1    Chen, Y.2    Tian, F.3
  • 13
    • 84901020406 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing
    • Liao C., Yin A.H., Peng C.F., et al. Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing. Proc Natl Acad Sci U S A 2014, 111:7415-7420.
    • (2014) Proc Natl Acad Sci U S A , vol.111 , pp. 7415-7420
    • Liao, C.1    Yin, A.H.2    Peng, C.F.3
  • 14
    • 84896500248 scopus 로고    scopus 로고
    • Maternal plasma fetal DNA fractions in pregnancies with low and high risks for fetal chromosomal aneuploidies
    • Hudecova I., Sahota D., Heung M.M., et al. Maternal plasma fetal DNA fractions in pregnancies with low and high risks for fetal chromosomal aneuploidies. PLoS One 2014, e88484.
    • (2014) PLoS One , pp. e88484
    • Hudecova, I.1    Sahota, D.2    Heung, M.M.3
  • 15
    • 84906281405 scopus 로고    scopus 로고
    • Copy number variation sequencing for comprehensive diagnosis of human chromosome disease syndromes
    • Liang D., Peng Y., Lv W., et al. Copy number variation sequencing for comprehensive diagnosis of human chromosome disease syndromes. J Mol Diagn 2014, 16:519-526.
    • (2014) J Mol Diagn , vol.16 , pp. 519-526
    • Liang, D.1    Peng, Y.2    Lv, W.3
  • 16
    • 84908220064 scopus 로고    scopus 로고
    • Maternal source of false-positive fetal sex chromosome aneuploidy in noninvasive prenatal testing
    • McNamara C.J., Limone L.A., Westover T., Miller R.C. Maternal source of false-positive fetal sex chromosome aneuploidy in noninvasive prenatal testing. Obstet Gynecol 2014, 123(Suppl. 1):69S-70S.
    • (2014) Obstet Gynecol , vol.123 , pp. 69S-70S
    • McNamara, C.J.1    Limone, L.A.2    Westover, T.3    Miller, R.C.4
  • 17
    • 79960555492 scopus 로고    scopus 로고
    • Duplication of the STS region in males is a benign copy-number variant
    • Furrow A., Theisen A., Velsher L., et al. Duplication of the STS region in males is a benign copy-number variant. Am J Med Genet A 2011, 155A:1972-1975.
    • (2011) Am J Med Genet A , vol.155 A , pp. 1972-1975
    • Furrow, A.1    Theisen, A.2    Velsher, L.3
  • 18
    • 84873711791 scopus 로고    scopus 로고
    • Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma
    • Srinivasan A., Bianchi D.W., Huang H., Sehnert A.J., Rava R.P. Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am J Hum Genet 2013, 92:167-176.
    • (2013) Am J Hum Genet , vol.92 , pp. 167-176
    • Srinivasan, A.1    Bianchi, D.W.2    Huang, H.3    Sehnert, A.J.4    Rava, R.P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.