Prenatal diagnosis of DMD in a female foetus affected by Turner syndrome

Prenatal Diagnosis

Volumn 24, Issue 11, 2004, Pages 913-917

  Satre, V ^a   Monnier, N ^a   Devillard, F ^a   Amblard, F ^a   Lunardi, J ^a  

^a GRENOBLE UNIVERSITY HOSPITAL   (France)

Author keywords

DMD; Mosaicism; Prenatal counseling; Turner syndrome

Indexed keywords

AMNIOTIC FLUID CELL; ARTICLE; CASE REPORT; CHORION VILLUS; CYTOGENETICS; DUCHENNE MUSCULAR DYSTROPHY; EXON; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; KARYOTYPE 45,X; KARYOTYPE 46,XX; MONOSOMY X; MOSAICISM; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEX DETERMINATION; TURNER SYNDROME;

DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; MALE; MUSCULAR DYSTROPHY, DUCHENNE; PEDIGREE; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS; TURNER SYNDROME;

EID: 9644275446     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.1031     Document Type: Article

References (9)

1. Bjerglund Nielsen L, Nielsen IM. 1984. Turner's syndrome and Duchenne muscular dystrophy in a girl with an X;autosome translocation. Ann Genet 27: 173-177.
2. Boue A. 1992. L'instabilité chromosomique des premières mitoses blastomériques. Médecine/sciences 8: 929-937.
3. Chelly J, Marlhens F, Le Marec B, et al. 1986. De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy. Hum Genet 74: 193-196.
4. Costa JM, Benachi A, Gautier E, Jouannic JM, Ernault P, Dumez Y. 2001. First-trimester fetal sex determination in maternal serum using real-time PCR. Prenat Diagn 21: 1070-1074.
5. Jeanpierre M. 1987. A rapid method for the purification of DNA from blood. Nucleic Acid Res 15: 9611.
6. Quan F, Janas J, Toth-Fejel S, Johnson DB, Wolford JK, Popovich BW. 1997. Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. Am J Hum Genet 60: 160-165.
7. Van den Berg C, Van Opstal D, Brandenburg H, Los FJ. 2000a. Case of 45,X/46,XY mosaicism with non-mosaic discordance between short-term villi (45,X) and cultured villi (46,XY). Am J Med Genet 93: 230-233.
8. Van den Berg C, Van Opstal D, Brandenburg H, et al. 2000b. Accuracy of abnormal karyotypes after the analysis of both short- and long-term culture of chorionic villi. Prenat Diagn 20: 956-969.
9. Yoshioka M, Yorifugi T, Mituyoshi I. 1998. Skewed X inactivation in manifesting carriers of Duchenne muscular dystrophy. Clin Genet 53: 102-107.