An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta

Clinical Genetics

Volumn 58, Issue 6, 2000, Pages 436-446

  Penaherrera Ms ^a   Barrett, I J ^a   Brown, C J ^a   Langlois, S ^a   Yong, S L ^a   Lewis, S ^a   Bruyere H ^a   Howard Peebles, P N ^b,c   Kalousek, D K ^a   Robinson, Wendy P ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b GENETICS AND IVF INSTITUTE   (United States)

^c VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Confined placental mosaicism; Mosaicism; Trisomy; X chromosome inactivation

Indexed keywords

ALLELE; ARTICLE; CELL SELECTION; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DIPLOIDY; DISEASE SEVERITY; EMBRYO; EMBRYO CELL; FEMALE; FETUS; FETUS (ANATOMY); FETUS DEATH; FETUS OUTCOME; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOTHESIS; NEWBORN; NEWBORN DEATH; PLACENTA; PREGNANCY COMPLICATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEX CHROMOSOME MOSAICISM; TRISOMY; TRISOMY 16; X CHROMOSOME INACTIVATION; ZYGOTE;

ADOLESCENT; ADULT; CHROMOSOMES, HUMAN, PAIR 16; DOSAGE COMPENSATION, GENETIC; FEMALE; FETAL DISEASES; FETUS; HUMANS; INFANT, NEWBORN; MOSAICISM; PLACENTA; PREGNANCY; TRISOMY;

EID: 0034529689     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2000.580603.x     Document Type: Article

References (27)

1. Mosaicism in chorionic villus sampling: An analysis of incidence and chromosomes involved in 2612 consecutive cases
2. Confined placental mosaicism
3. Current topic: Confined placental mosaicism and intrauterine fetal development
4. A meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast and increased risk of fetal IUGR
5. A review of trisomy 16 and trisomy 16 mosaicism
6. Uniparental disomy for chromosome 16 in humans
7. Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis
8. Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism
9. Etiologies of fetal growth restriction
10. Extremely skewed X-chromosome inactivation is increased in women with recurrent spontaneous abortion
11. Distribution of mosaicism in human placentae
12. Molecular cytogenetic detection of confined gonadal mosaicism in a conceptus with trisomy 16 placental mosaicism
13. The utilization of interphase cytogenetic analysis for the detection of mosaicism
14. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen receptor gene correlates with X chromosome inactivation
15. Mammalian X-chromosome inactivation
16. Nonrandom X-inactivation patterns in normal females: Lyonization ratios vary with age
17. X chromosome inactivation mosaicism in the mouse
18. Tissue specificity of X-chromosome inactivation patterns
19. Maximum-likelihood analysis of human t-cell X chromosome inactivation patterns: Normal women versus carriers of X-linked severe combined immunodeficiency
20. X-chromosome inactivation occurs at different times in different tissues of the post-implantation mouse embryo
21. X-inactivation pattern in three cases of X/autosome translocation
22. Viable pregnancies after diagnosis of trisomy 16 by CVS: Lethal aneuploidy compartmentalized to the trophoblast
23. Mosaic trisomy 16 ascertained through amniocentesis: Evaluation of 11 new cases
24. Intrauterine growth of live-born Caucasian infants at sea level: Standards obtained from measurements in 7 dimensions of infants born between 25 and 44 weeks gestation
25. Growth and its disorders
26. Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy
27. Trisomy 7 CVS mosaicism: Pregnancy outcome, placental and DNA analysis in 14 cases