Birth of a child with trisomy 9 mosaicism syndrome associated with paternal isodisomy 9: Case of a positive noninvasive prenatal test result unconfirmed by invasive prenatal diagnosis

Molecular Cytogenetics

Volumn 8, Issue 1, 2015, Pages

  Ma, Jingmei ^a   Cram, David S ^b   Zhang, Jianguang ^b   Shang, Ling ^b   Yang, Huixia ^a   Pan, Hong ^a  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b Berry Genomics ^*  (China)

Author keywords

Fluorescent in situ hybridization; Isodisomy 9; Karyotyping; Noninvasive prenatal testing; Prenatal diagnosis; Quantitative fluorescent PCR; Trisomy 9 mosaicism syndrome; Uniparental disomy

Indexed keywords

ARTICLE; BRAIN DISEASE; BRAIN HEMORRHAGE; CASE REPORT; CEREBRAL DYSPLASIA; CHILD; CHROMOSOME 9; CHROMOSOME ANALYSIS; CONGENITAL HEART DISEASE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DNA SEQUENCE; DYSPLASIA; ECHOGRAPHY; FAILURE TO THRIVE; FEMALE; FETUS CELL; FLUORESCENCE IN SITU HYBRIDIZATION; GROWTH RETARDATION; HUMAN; HUMAN CELL; HYPERTELORISM; INTELLECTUAL IMPAIRMENT; ISODISOMY 9; KARYOTYPING; MOSAICISM; MOTOR DYSFUNCTION; NON INVASIVE PROCEDURE; NONINVASIVE PRENATAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RESPIRATORY TRACT INFECTION; SCOLIOSIS; SCREENING TEST; SHORT TANDEM REPEAT; SOMATIC CELL; SPINE RADIOGRAPHY; THROMBOCYTOPENIA; TRISOMY 9 MOSAICISM; UNIPARENTAL DISOMY;

EID: 84933520738     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/s13039-015-0145-4     Document Type: Article

References (31)

1. Benn P, Cuckle H, Pergament E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol. 2013;42:15-33.
2. Song Y, Liu C, Qi H, Zhang Y, Bian X, Liu J. Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population. Prenat Diagn. 2013;33:700-6.
3. Bianchi DW, Parker RL, Wentworth J, Madankumar R, Saffer C, Das AF, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;370:799-808.
4. American College of Obstetricians and Gynecologists Committee on Genetics. Committee opinion No. 545: noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol. 2012;120:4-1532.
5. Liang D, Lv W, Wang H, Xu L, Liu J, Li H, et al. Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing. Prenat Diagn. 2013;33:409-15.
6. Song Y, Huang S, Zhou X, Jiang Y, Qi Q, Bian X, et al. Non-invasive prenatal testing for fetal aneuploidies in the first trimester of pregnancy. Ultrasound Obstet Gynecol. 2015;45:55-60.
7. ISCN 2013. An International System for Human Cytogenetic Nomenclature (2013). Editors: L.g. Shaffer, J McGowen, M. Schmid. Publisher: Karger, Basel, Switzerland.
8. Feingold M, Atkins L. A case of trisomy 9. J Med Genet. 1973;10:184-7.
9. Haslam RH, Broske SP, Moore CM, Thomas GH, Neill CA. Trisomy 9 mosaicism with multiple congenital anomalies. J Med Genet. 1973;10:180-4.
10. Arnold GL, Kirby RS, Stern TP, Sawyer JR. Trisomy 9: review and report of two new cases. Am J Med Genet. 1995;56:252-7.
11. Bruns D. Presenting physical characteristics, medical conditions, and developmental status of long-term survivors with trisomy 9 mosaicism. Am J Med Genet A. 2011;155A:1033-9.
12. Sherer DM, Wang N, Thompson HO, Peterson JC, Miller ME, Metlay LA, et al. An infant with trisomy 9 mosaicism presenting as a complete trisomy 9 by amniocentesis. Prenat Diagn. 1992;12:31-7.
13. Pfeiffer RA, Ulmer R, Kniewald A, Wagner-Thiessen E. Prenatal diagnosis of trisomy 9 mosaicism possibly limited to fetal membranes. Prenat Diagn. 1984;4:387-9.
14. Smoleniec JS, Davies T, Lunt P, Berry PJ, James D. Complex mosaicism associated with trisomy 9. Prenat Diagn. 1993;13:211-3.
15. Harper JC, Wilton L, Traeger-Synodinos J, Goossens V, Moutou C, SenGupta SB, et al. The ESHRE PGD consortium: 10 years of data collection. Hum Reprod Update. 2012;18:234-47.
16. Taylor TH, Gitlin SA, Patrick JL, Crain JL, Wilson JM, Griffin DK. The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans. Hum Reprod Update. 2014;20:571-81.
17. Eggermann T, Soellner L, Buiting K, Kotzot D. Mosaicism and uniparental disomy in prenatal diagnosis. Trens Mol Med. 2015;21:77-87.
18. Wilkinson TA, James RS, Crolla JA, Cockwell AE, Campbell PL, Temple IK. A case of maternal uniparental disomy of chromosome 9 in association with confined placental mosaicism for trisomy 9. Prenat Diagn. 1996;16:371-4.
19. Slater HR, Ralph A, Daniel A, Worthington S, Roberts C. A case of maternal uniparental disomy of chromosome 9 diagnosed prenatally and the related problem of residual trisomy. Prenat Diagn. 2000;20:930-2.
20. Morison IM, Reeve AE. A catalogue of imprinted genes and parent-of-origin effects in humans and animals. Hum Mol Genet. 1998;7:1599-609.
21. Van der Hagen CB, Eiklid K, Orstavik KH, Braaten O, Prescott T, Kroken M, et al. Prenatally diagnosed trisomy 9 mosaicism and paternal uniparental disomy 9 in the child. Europ J Hum Genet. 2003;11(Suppl):409.
22. Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C et al. A copy number variation morbidity map of developmental delay. Nat Genet. 2011;43:838-46.
23. Zadeh TM, Peters J, Sandlin C. Prenatal diagnosis of mosaic trisomy 9. Prenat Diagn. 1987;7:67-70.
24. Schwartz S, Ashai S, Meijboom EJ, Schwartz MF, Sun CC, Cohen MM. Prenatal detection of trisomy 9 mosaicism. Prenat Diagn. 1989;9:549-54.
25. Merino A, De Perdigo A, Nombalais F, Yvinec M, Le Roux MG, Bellec V. Prenatal diagnosis of trisomy 9 mosaicism: two new cases. Prenat Diagn. 1993;13:1001-7.
26. Kosaki R, Hanai S, Kakishima H, Okada MA, Hayashi S, Ito Y, et al. Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood: trisomy 9 mosaicism. Congenit Anom (Kyoto). 2006;46:115-7.
27. Daniel A, Wu Z, Darmanian A, Malafiej P, Tembe V, Peters G, et al. Issues arising from the prenatal diagnosis of some rare trisomy mosaics-the importance of cryptic fetal mosaicism. Prenat Diagn. 2004;24:524-36.
28. Pham J, Shaw C, Pursley A, Hixson P, Sampath S, Roney E, et al. Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. Eur J Hum Genet. 2014;22:969-78.
29. Berry AC, Mutton DE, Lewis DG. Mosaicism and the trisomy 8 syndrome. Clin Genet. 1978;14:105-14.
30. 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. 1996;16:511-24.
31. Li H, Durbin R. Fast and accurate short read alignment with burrows- wheeler transform. Bioinformatics. 2009;25:1754-60.