Genome-Wide Detection of Uniparental Disomy in a Fetus with Intrauterine Growth Restriction Using Genotyping Microarrays

Taiwanese Journal of Obstetrics and Gynecology

Volumn 48, Issue 2, 2009, Pages 152-158

  Soong, Yung Kuei ^a   Wang, Tzu Hao ^a   Lee, Yun Shien ^a,b   Chen, Chih Ping ^c   Chang, Chia Lin ^a   Ho, Szu Ying ^a,d   Chao, An Shine ^a   Cheng, Po Jen ^a   Chang, Shuenn Dyh ^a  

^a CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^b MING CHUAN UNIVERSITY   (Taiwan)

^c MACKAY MEMORIAL HOSPITAL   (Taiwan)

^d CATHAY GENERAL HOSPITAL   (Taiwan)

Author keywords

microarray based comparative genomic hybridization; single nucleotide polymorphism markers; uniparental disomy

Indexed keywords

ADULT; AMNION; AMNION CELL; AMNIOTIC FLUID CELL; ARTICLE; AUTOPSY; CASE REPORT; CHORION VILLUS SAMPLING; CHROMOSOME; CHROMOSOME 16; CLINICAL FEATURE; DNA POLYMORPHISM; FEMALE; FETUS; FETUS ECHOGRAPHY; GENE MAPPING; GENOME ANALYSIS; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRAUTERINE GROWTH RETARDATION; KARYOTYPE; KARYOTYPE 46,XX; KARYOTYPE 47,XX,+16; KARYOTYPING; LUNG; MALROTATION SYNDROME; MICROARRAY ANALYSIS; MOLECULAR DYNAMICS; NUCHAL TRANSLUCENCY MEASUREMENT; NUCLEAR MAGNETIC RESONANCE IMAGING; PLACENTA; PRENATAL CARE; PRENATAL DIAGNOSIS; SHORT TANDEM REPEAT; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN; TRISOMY 16; TRISOMY 16 MOSAICISM; UMBILICAL CORD; UNIPARENTAL DISOMY;

ADULT; CHROMOSOME ABERRATIONS; FEMALE; FETAL GROWTH RETARDATION; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; MAGNETIC RESONANCE IMAGING; MODELS, GENETIC; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; TRISOMY; ULTRASONOGRAPHY, PRENATAL; UNIPARENTAL DISOMY;

EID: 67749108256     PISSN: None     EISSN: 10284559     Source Type: Journal    
DOI: 10.1016/S1028-4559(09)60277-1     Document Type: Article

References (28)

1. Shaffer L.G., Agan N., Goldberg J.D., Ledbetter D.H., Longshore J.W., and Cassidy S.B. American College of Medical Genetics statement of diagnostic testing for uniparental disomy. Genet Med 3 (2001) 206-211
2. Spence J.E., Perciaccante R.G., Greig G.M., et al. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 42 (1988) 217-226
3. Wolstenholme J. Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16, and 22: their incidence, likely origins, and mechanisms for cell lineage compartmentalization. Prenat Diagn 16 (1996) 511-524
4. Robinson W.P., Barrett I.J., Bernard L., et al. 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 intrauterine growth restriction. Am J Hum Genet 60 (1997) 917-927
5. Lestou V.S., and Kalousek D.K. Confined placental mosaicism and intrauterine fetal growth. Arch Dis Child Fetal Neonatal Ed 79 (1998) 223-226
6. Johnson P., Duncan K., Blunt S., Bell G., Ali Z., Cox P., and Moore G.E. Apparent confined placental mosaicism of trisomy 16 and multiple fetal anomalies: case report. Prenat Diagn 20 (2000) 417-421
7. Kalousek D.K., Langlois S., Barrett I., et al. Uniparental disomy for chromosome 16 in humans. Am J Hum Genet 52 (1993) 8-16
8. Bruce S., Leinonen R., Lindgren C.M., et al. Global analysis of uniparental disomy using high density genotyping arrays. J Med Genet 42 (2005) 847-851
9. Lee Y.S., Chao A., Chao A.S., et al. CGcgh: a tool for molecular karyotyping using DNA microarray-based comparative genomic hybridization (array-CGH). J Biomed Sci 15 (2008) 687-696
10. Lee Y.S., Tsai C.N., Tsai C.L., et al. Comparison of whole genome amplification methods for further quantitative analysis with microarray-based comparative genomic hybridization. Taiwan J Obstet Gynecol 47 (2008) 32-41
11. Chen C.P., Chern S.R., Wang T.H., et al. Prenatal diagnosis and molecular cytogenetic analysis of partial monosomy 10q (10q25.3→qter) and partial trisomy 18q (18q23→qter) in a fetus associated with cystic hygroma and ambiguous genitalia. Prenat Diagn 25 (2005) 492-496
12. Peng H.H., Wang C.J., Wang T.H., and Chang S.D. Prenatal diagnosis of de novo interstitial 2q14.2-2q21.3 deletion assisted by array-based comparative genomic hybridization: a case report. J Reprod Med 51 (2006) 438-442
13. Chen C.P., Lin S.P., Wang T.H., Chen Y.J., Chen M., and Wang W. Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3→q31.3) associated with Gorlin syndrome. Prenat Diagn 26 (2006) 725-729
14. Chen C.P., Wang T.H., Chen Y.J., et al. Prenatal diagnosis of Fryns syndrome associated with a microdeletion at 8p23.1. Prenat Diagn 27 (2007) 967-969
15. Papadogiannakis N., Iwarsson E., Taimi T., Zaphiropoulos P.G., and Westgren M. Lack of aneuploidy for chromosomes 15, 16, and 18 in placentas from small-for-gestational-age liveborn infants. Am J Obstet Gynecol 198 (2008) 231 e1-7.
16. Kalousek D.K., and Dill F.J. Chromosomal mosaicism confined to the placenta in human conceptions. Science 221 (1983) 665-667
17. Artan S., Basçaran N., Hassa H., et al. Confined placental mosaicism in term placentae: analysis of 125 cases. Prenat Diagn 15 (1995) 1135-1142
18. Wilkins-Haug L., Roberts D.J., and Morton C.C. Confined placental mosaicism and intrauterine growth retardation: a casecontrol analysis of placentas at delivery. Am J Obstet Gynecol 172 (1995) 44-50
19. Engel E. Uniparental disomy (UPD). Genomic imprinting and a case for new genetics (prenatal and clinical implications: the "Likon" concept). Ann Genet 40 (1997) 24-34
20. Groli C., Cerri V., Tarantini M., et al. Maternal serum screening and trisomy 16 confined to the placenta. Prenat Diagn 16 (1996) 685-689
21. Nicolaides K.H., Heath V., and Cicero S. Increased fetal nuchal translucency at 11-14 weeks. Prenat Diagn 22 (2002) 308-315
22. Hyett J. Does nuchal translucency have a role in fetal cardiac screening?. Prenat Diagn 24 (2004) 1130-1135
23. Krantz D.A., Hallahan T.W., Orlandi F., Buchanan P., Larsen Jr. J.W., and Macri J.N. First-trimester Down syndrome screening using dried blood biochemistry and nuchal translucency. Obstet Gynecol 96 (2000) 207-213
24. Balmer D., Baumer A., Röthlisberger B., and Schinzel A. Severe intra-uterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta. Prenat Diagn 19 (1999) 1061-1064
25. Roberts E., Dunlop J., Davis G.S., Churchill D., and Davison E.V. A further case of confined placental mosaicism for trisomy 2 associated with adverse pregnancy outcome. Prenat Diagn 23 (2003) 564-565
26. Redaelli S., Sala E., Roncaglia N., et al. Severe intrauterine growth restriction and trisomy 15 confined placental mosaicism: a case report and review of literature. Prenat Diagn 25 (2005) 140-147
27. Robinson W.P., McGillivray B., Lewis M.E., Arbour L., Barrett I., and Kalousek D.K. Prenatally detected trisomy 20 mosaicism. Prenat Diagn 25 (2005) 239-244
28. Neiswanger K., Hohler P.M., Hively-Thomas L.B., McPherson E.W., Hogge W.A., and Surti U. Variable outcomes in mosaic trisomy 16: five case reports and literature analysis. Prenat Diagn 26 (2006) 454-461