PRENATAL-DIAGNOSIS OF MOSAIC 4P - IN A FETUS WITH TRISOMY-21

被引:4
作者
PHELAN, MC [1 ]
SAUL, RA [1 ]
GAILEY, TA [1 ]
SKINNER, SA [1 ]
机构
[1] GREENVILLE GEN HOSP,GREENVILLE,SC
关键词
WOLF-HIRSCHHORN SYNDROME; DEL(4)(P16); 4P-; MOSAICISM; TRISOMY; 21; PRENATAL DIAGNOSIS;
D O I
10.1002/pd.1970150311
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Mosaicism for the Wolf-Hirschhorn syndrome, del(4)(p16), is extremely rare and has not been reported in association with a numerical chromosome abnormality. We report the prenatal diagnosis of mosaic del(4)(p16) and non-mosaic trisomy 21 in a 16-week female fetus. The pregnancy ended in spontaneous abortion at 34 weeks secondary to fetal demise. The fetus had features of both 4p - and trisomy 21.
引用
收藏
页码:274 / 277
页数:4
相关论文
共 50 条
  • [41] Prenatal diagnosis of umbilical cord aneurysm in a fetus with trisomy 18
    Berg, C
    Geipel, A
    Germer, U
    Gloeckner-Hofmann, K
    Gembruch, U
    ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2001, 17 (01) : 79 - 81
  • [42] Prenatal diagnosis of mosaic trisomy 8 in a fetus with normal nuchal translucency thickness and reversed end-diastolic ductus venosus flow
    Campbell, S
    Mavrides, E
    Prefumo, F
    Presti, F
    Carvalho, JS
    ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2001, 17 (04) : 341 - 343
  • [43] CLINICAL MANIFESTATIONS OF PARTIAL TRISOMY 4p
    Demirhan, O.
    Ozgunen, F. T.
    Tastemir, D.
    BALKAN JOURNAL OF MEDICAL GENETICS, 2010, 13 (02) : 61 - 63
  • [44] Prenatal diagnosis of an infant with mosaic trisomy 16 of paternal origin
    Paulyson, KJ
    Sherer, DM
    Christian, SL
    Lewis, KM
    Ledbetter, DH
    Salafia, CM
    Meck, JM
    PRENATAL DIAGNOSIS, 1996, 16 (11) : 1021 - 1026
  • [45] Mosaic trisomy 22 at amniocentesis: Prenatal diagnosis and literature review
    Chen, Chih-Ping
    Huang, Ming-Chao
    Chern, Schu-Rern
    Wu, Peih-Shan
    Chen, Shin-Wen
    Chuang, Tzu-Yun
    Town, Dai-Dyi
    Wang, Wayseen
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2019, 58 (05): : 692 - 697
  • [46] Increased Fetal Nuchal Translucency as a Sole Clue in the Prenatal Diagnosis of a Fetus with Trisomy 13
    Ki, Kyung-Do
    Kim, So-Ra
    Lee, Woo-In
    FETAL DIAGNOSIS AND THERAPY, 2009, 26 (01) : 54 - 56
  • [47] A FURTHER PRENATAL-DIAGNOSIS OF MOSAIC TETRASOMY-12P (PALLISTER-KILLIAN SYNDROME)
    TEJADA, MI
    URIBARREN, A
    BRIONES, P
    VILASECA, MA
    PRENATAL DIAGNOSIS, 1992, 12 (06) : 529 - 534
  • [48] THE NEED TO REEVALUATE TRISOMY SCREENING FOR ADVANCED MATERNAL AGE IN PRENATAL-DIAGNOSIS
    CLARK, BA
    KENNEDY, K
    OLSON, S
    AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 1993, 168 (03) : 812 - 816
  • [49] Prenatal diagnosis of fetal trisomy 21 from maternal peripheral blood
    Yang, YH
    Kim, SH
    Yang, ES
    Kim, SK
    Kim, IK
    Park, YW
    Cho, JS
    Lee, YH
    YONSEI MEDICAL JOURNAL, 2003, 44 (02) : 181 - 186
  • [50] Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype
    Beaujard, MP
    Jouannic, JM
    Bessières, B
    Borie, C
    Martin-Luis, I
    Fallet-Bianco, C
    Portnoi, MF
    PRENATAL DIAGNOSIS, 2005, 25 (06) : 451 - 455