A DOWN SYNDROME FEMALE INFANT WITH PARTIAL TRISOMY OF CHROMOSOME 21-ABNORMAL NUCHAL TRANSLUCENCY SCREENING TEST

被引：0
|
作者：
Strah, D.
Veble, A. [1 ]
Rudolf, G. [1 ]
Writzl, K. [1 ]
Gersak, K. [1 ]
机构：
[1] Univ Med Ctr Ljubljana, Dept Obstet & Gynaecol, Div Med Genet, SI-1000 Ljubljana, Slovenia
来源：
GENETIC COUNSELING | 2008年 / 19卷 / 04期
关键词：
Down syndrome; Pericentric inversion; Recombinant chromosome; Nuchal translucency thickness;
D O I：
暂无
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
A Down syndrome female infant with partial trisomy of chromosome 21 - abnormal nuchal translucency screening test: We describe a case of 24-year-old mother with abnormal nuchal translucency screening test. Standard G banding of chromosomes showed a normal prenatal karyotype. A Down syndrome female infant with partial duplication of the long arm of chromosome 21 was born resulted from a maternal pericentric inversion of region p11.1 to q22.1 of one of chromosome 21. As far as we know this case reports the first abnormal nuchal translucency screening test result due to partial trisomy of chromosome 21.
引用
收藏
页码：429 / 432
页数：4
相关论文
共 50 条
  • [1] Nuchal Translucency Thresholds in Prenatal Screening for Down Syndrome and Trisomy 18
    Miron, Pierre
    Cote, Yvan P.
    Lambert, Jean
    JOURNAL OF OBSTETRICS AND GYNAECOLOGY CANADA, 2009, 31 (03) : 227 - 235
  • [2] Quality assurance of nuchal translucency for prenatal fetal Down syndrome screening
    Sahota, Daljit Singh
    Leung, Wing Cheong
    To, Wing Kee
    Chan, Wing Pan
    Lau, Tze Kin
    Leung, Tak Yeung
    JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE, 2012, 25 (07) : 1039 - 1043
  • [3] Prenatal diagnosis of trisomy 21 in monozygotic twins with increased nuchal translucency and abnormal serum biochemistry
    Verdin, SM
    Braithwaite, JM
    Spencer, K
    Economides, DL
    FETAL DIAGNOSIS AND THERAPY, 1997, 12 (03) : 153 - 155
  • [4] Nuchal translucency-based Down syndrome screening: Barriers to implementation
    Malone, FD
    SEMINARS IN PERINATOLOGY, 2005, 29 (04) : 272 - 276
  • [5] First-Trimester Nuchal Translucency Screening to Detect Down Syndrome
    Smith, DeAnn
    NEWBORN AND INFANT NURSING REVIEWS, 2008, 8 (01) : E1 - E6
  • [6] Women's opinions on the offer and use of nuchal translucency screening for Down syndrome
    Müller, MA
    Bleker, OP
    Bonse, GJ
    Bilardo, CM
    PRENATAL DIAGNOSIS, 2006, 26 (02) : 105 - 111
  • [7] Women's interpretation of an abnormal result on measurement of fetal nuchal translucency and maternal serum screening for prenatal testing of Down syndrome
    Khoshnood, B.
    De Vigan, C.
    Blondel, B.
    Lhomme, A.
    Vodovar, V.
    Garel, M.
    Goffinet, F.
    ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2006, 28 (03) : 242 - 248
  • [8] Combining nuchal translucency and serum markers in prenatal screening for Down syndrome in twin pregnancies
    Wald, NJ
    Rish, S
    Hackshaw, AK
    PRENATAL DIAGNOSIS, 2003, 23 (07) : 588 - 592
  • [9] Model predicted Down syndrome detection rates for nuchal translucency screening in twin pregnancies
    Maymon, Ron
    Rosen, Hadar
    Baruchin, Ohad
    Herman, Arie
    Cuckle, Howard
    PRENATAL DIAGNOSIS, 2011, 31 (05) : 426 - 429
  • [10] Prospective audit of a one-centre combined nuchal translucency and triple test programme for the detection of trisomy 21
    Babbur, V
    Lees, CC
    Goodburn, SF
    Morris, N
    Breeze, ACG
    Hackett, GA
    PRENATAL DIAGNOSIS, 2005, 25 (06) : 465 - 469
12345