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
  • [1] Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly?
    Karmous-Benailly, H
    Tabet, AC
    Thaly, A
    Dupuy, O
    Huten, Y
    Luton, D
    Baumann, C
    Delezoide, AL
    PRENATAL DIAGNOSIS, 2005, 25 (03) : 193 - 197
  • [2] Diagnosis of trisomy-21
    Bourel, M
    BULLETIN DE L ACADEMIE NATIONALE DE MEDECINE, 1998, 182 (06): : 1295 - 1296
  • [3] Prenatal diagnosis of a trisomy 7/maternal uniparental heterodisomy 7 mosaic fetus
    Bilimoria, KY
    Rothenberg, JM
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 118A (01): : 60 - 63
  • [4] PRENATAL-DIAGNOSIS AND DYSMORPHIC FINDINGS IN MOSAIC TRISOMY-16
    GARBER, A
    CARLSON, D
    SCHRECK, R
    FISCHELGHODSIAN, N
    HSU, WT
    OEZTAS, S
    PEPKOWITZ, S
    GRAHAM, JM
    PRENATAL DIAGNOSIS, 1994, 14 (04) : 257 - 266
  • [5] Discordant prenatal diagnosis of trisomy 21 due to mosaic structural rearrangements of chromosome 21
    Brisset, S
    Aboura, A
    Audibert, F
    Costa, JM
    L'Herminé, AC
    Gautier, V
    Frydman, R
    Tachdjian, G
    PRENATAL DIAGNOSIS, 2003, 23 (06) : 461 - 469
  • [6] Prenatal diagnosis of mosaic trisomy 2 and literature review
    Wang, Ting
    Lian, Jufei
    Ren, Congmian
    Huang, Huamei
    Huang, Yanlin
    Xu, Ling
    Zheng, Laiping
    Cai, Chanhui
    Guo, Li
    MOLECULAR CYTOGENETICS, 2020, 13 (01)
  • [7] PRENATAL DIAGNOSIS AND GENETIC COUNSELING FOR MOSAIC TRISOMY 13
    Chen, Chih-Ping
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2010, 49 (01): : 13 - 22
  • [8] Prenatal diagnosis of mosaic trisomy 13: A case report
    Eubanks, SR
    Kuller, JA
    Amjadi, D
    Powell, CM
    PRENATAL DIAGNOSIS, 1998, 18 (09) : 971 - 974
  • [9] Prenatal diagnosis of a fetus with partial trisomy 7p
    Ozgun, Mahmut Tuncay
    Batukan, Cem
    Basbug, Mustafa
    Akgun, Hulya
    Caglayan, Okay
    Dundar, Munis
    FETAL DIAGNOSIS AND THERAPY, 2007, 22 (03) : 229 - 232
  • [10] Prenatal diagnosis of a fetus with a cryptic translocation 4p;18p and Wolf-Hirschhorn syndrome (WHS)
    Kohlschmidt, N
    Zielinski, J
    Brude, E
    Schäfer, D
    Olert, J
    Hallermann, C
    Coerdt, W
    Arnemann, J
    PRENATAL DIAGNOSIS, 2000, 20 (02) : 152 - 155