Trisomy 7 mosaicism at amniocentesis: Interphase FISH, QF-PCR, and aCGH analyses on uncultured amniocytes for rapid distinguishing of true mosaicism from pseudomosaicism

Taiwanese Journal of Obstetrics and Gynecology

Volumn 51, Issue 1, 2012, Pages 77-82

  Chen, Chih Ping ^a,b,c,d,e   Huang, Hsu Kuang ^f   Su, Yi Ning ^g   Chern, Schu Rern ^b   Su, Jun Wei ^b,h   Lee, Chen Chi ^b   Town, Dai Dyi ^b   Chen, Wen Lin ^b   Chen, Yu Ting ^b   Wang, Wayseen ^b,i  

^a MACKAY MEDICAL COLLEGE   (Taiwan)

^b MACKAY MEMORIAL HOSPITAL   (Taiwan)

^c ASIA UNIVERSITY   (Taiwan)

^d CHINA MEDICAL UNIVERSITY   (Taiwan)

^e NATIONAL YANG MING UNIVERSITY   (Taiwan)

^f TAIWAN ADVENTIST HOSPITAL   (Taiwan)

^g NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^h CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

ⁱ TATUNG UNIVERSITY   (Taiwan)

Author keywords

ACGH; Amniocentesis; Cord blood sampling; Interphase FISH; QF PCR; Trisomy 7 mosaicism

Indexed keywords

ADULT; ALLELE; AMNIOCENTESIS; AMNION CELL; ARTICLE; BLOOD SAMPLING; CASE REPORT; CHROMOSOME 7Q; CHROMOSOME MOSAICISM; COMPARATIVE GENOMIC HYBRIDIZATION; ELECTROPHORESIS; FACE DYSMORPHIA; FEMALE; FETUS; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DOSAGE; GESTATIONAL AGE; HUMAN; HUMAN CELL; HUMAN TISSUE; INTERPHASE; KARYOTYPE 46,XY; LIVER; LUNG; MALE; MEMBRANE; PLACENTA; POLYMERASE CHAIN REACTION; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PSEUDOMOSAICISM; SKIN; TRISOMY 7; TRISOMY 7 MOSAICISM; UMBILICAL CORD BLOOD;

ADULT; AMNIOCENTESIS; CHROMOSOMES, HUMAN, PAIR 7; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTERPHASE; KARYOTYPE; MOSAICISM; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; TRISOMY; UNIPARENTAL DISOMY;

EID: 84862812244     PISSN: 10284559     EISSN: 18756263     Source Type: Journal    
DOI: 10.1016/j.tjog.2012.01.015     Document Type: Article

References (23)

1. Chen C.-P. Prenatal diagnosis and genetic counseling for mosaic trisomy 13. Taiwan J Obstet Gynecol 2010, 49:13-22.
2. Hodes M.E., Gleiser S., DeRosa G.P., Yune H.Y., Girod D.A., Weaver D.D., et al. Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia. J Craniofac Genet Dev Biol 1981, 1:49-55.
3. Pflueger S.M.V., Scott C.I., Moore C.M. Trisomy 7 and Potter syndrome. Clin Genet 1984, 25:543-548.
4. Kahler S.G., McConkie-Rosell A., Iafolla A.K., Lamman J.T. Radial defects with other malformations - possible trisomy 7 mosaicism. Proc Greenwood Genet Center 1990, 9:65-66.
5. Jenkins D., Martin K., Young I.D. Hypomelanosis of Ito associated with mosaicism for trisomy 7 and apparent 'pseudomosaicism' at amniocentesis. J Med Genet 1993, 30:783-784.
6. Magenis E., Webb M.J., Spears B., Opitz J.M. Blaschkolinear malformation syndrome in complex trisomy-7 mosaicism. Am J Med Genet 1999, 87:375-383.
7. Verghese S., Newlin A., Miller M., Burton B.K. Mosaic trisomy 7 in a patient with pigmentary abnormalities. Am J Med Genet 1999, 87:371-374.
8. Kivirikko S., Salonen R., Salo A., von Koskull H. Prenatally detected trisomy 7 mosaicism in a dysmorphic child. Prenat Diagn 2002, 22:541-544.
9. Chen C.-P., Su Y.-N., Chern S.-R., Hwu Y.-M., Lin S.-P., Hsu C.-H., et al. Mosaic trisomy 7 at amniocentesis: prenatal diagnosis and molecular genetic analyses. Taiwan J Obstet Gynecol 2010, 49:333-340.
10. Bilimoria K.Y., Rothenberg J.M. Prenatal diagnosis of a trisomy 7/maternal uniparental heterodisomy 7 mosaic fetus. Am J Med Genet 2003, 118A:60-63.
11. Font-Montgomery E., Stone K.M., Weaver D.D., Vance G.H., Das S., Thurston V.C. Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7. Birth Defects Res A Clin Mol Teratol 2005, 73:577-582.
12. Flori E., Girodon E., Samama B., Becmeur F., Viville B., Girard-Lemaire F., et al. Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome. Eur J Hum Genet 2005, 13:1013-1018.
13. Petit F., Holder-Espinasse M., Duban-Bedu B., Bouquillon S., Boute-Benejean O., Bazin A., et al. Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell-Silver syndrome. Clin Genet 2012, 81:265-271.
14. Chen C.-P., Chern S.-R., Chen L.-F., Chen W.-L., Wang W. Prenatal diagnosis of low-level mosaic trisomy 7 by amniocentesis. Prenat Diagn 2005, 24:1067-1069.
15. Donaghue C., Mann K., Docherry Z., Ogilvie C.M. Detection of mosaicism for primary trisomies in prenatal samples by QF-PCR and karyotype analysis. Prenat Diagn 2005, 25:65-72.
16. Ballif B.C., Rorem E.A., Sundin K., Lincicum M., Gaskin S., Coppinger J., et al. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am J Med Genet 2006, 140A:2757-2767.
17. Shaffer L.G., Kashork C.D., Saleki R., Rorem E., Sundin K., Ballif B.C., et al. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 2006, 149:98-102.
18. Cross J., Peters G., Wu Z., Brohede J., Hannan G.N. Resolution of trisomic mosaicism in prenatal diagnosis: estimated performance of a 50K SNP microarray. Prenat Diagn 2007, 27:1197-1204.
19. Chen C.-P., Chen M., Pan Y.-J., Su Y.-N., Chern S.-R., Tsai F.-J., et al. Prenatal diagnosis of mosaic trisomy 8: clinical report and literature review. Taiwan J Obstet Gynecol 2011, 50:331-338.
20. Chen C.-P., Lin M.-H., Su Y.-N., Chern S.-R., Tsai F.-J., Wu P.-C., et al. Mosaic trisomy 9 at amniocentesis: prenatal diagnosis and molecular genetic analyses. Taiwan J Obstet Gynecol 2010, 49:341-350.
21. Chen C.-P., Su Y.-N., Lin S.-Y., Chern S.-R., Chen Y.-T., Lee M.-S., et al. Prenatal diagnosis of mosaic trisomy 2: discrepancy between molecular cytogenetic analyses of uncultured amniocytes and karyotyping of cultured amniocytes in a pregnancy with severe fetal intrauterine growth restriction. Taiwan J Obstet Gynecol 2011, 50:390-393.
22. Chen C.-P., Hung F.-Y., Su Y.-N., Chern S.-R., Su J.-W., Lee C.-C., et al. Prenatal diagnosis of mosaic trisomy 9. Taiwan J Obstet Gynecol 2011, 50:549-553.
23. Hsu L.Y.F., Yu M.-T., Neu R.L., Van Dyke D.L., Benn P.A., Bradshaw C.L., et al. Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20 and 21: karyotype/phenotype correlations. Prenat Diagn 1997, 17:201-242.