Prenatal Diagnosis and Molecular Cytogenetic Characterization of a Small Supernumerary Marker Chromosome Derived From Chromosome 21

Taiwanese Journal of Obstetrics and Gynecology

Volumn 49, Issue 3, 2010, Pages 377-380

  Chen, Chih Ping ^a,b,c,d,e   Lin, Chyi Chyang ^f   Ko, Tsang Ming ^g   Tsai, Fuu Jen ^c,f   Chern, Schu Rern ^a   Lee, Chen Chi ^a   Chen, Yu Ting ^a   Wu, Pei Chen ^a   Wang, Wayseen ^a,h  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b ASIA UNIVERSITY   (Taiwan)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

^d Institute of Clinical and Community Health Nursing   (Taiwan)

^e NATIONAL YANG MING UNIVERSITY   (Taiwan)

^f CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^g Genephile Bioscience Laboratory   (Taiwan)

^h TATUNG UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMNIOCENTESIS; CASE REPORT; CHROMOSOME 21; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; CHROMOSOME DUPLICATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; LETTER; MOLECULAR PROBE; PRENATAL DIAGNOSIS; SMALL SUPERNUMERARY MARKER CHROMOSOME; CHROMOSOME 22; CLINICAL FEATURE; CYTOGENETICS; DISEASE COURSE; KARYOTYPE; SUPERNUMERARY CHROMOSOME;

ADULT; AMNIOCENTESIS; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 21; FEMALE; GENE DOSAGE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PREGNANCY; CHROMOSOMES, HUMAN, PAIR 22; COMPARATIVE GENOMIC HYBRIDIZATION; GENETIC MARKERS; OLIGONUCLEOTIDE PROBES; REPRODUCIBILITY OF RESULTS;

EID: 78149301279     PISSN: 10284559     EISSN: 10284559     Source Type: Journal    
DOI: 10.1016/S1028-4559(10)60080-0     Document Type: Letter

References (18)

1. Liehr T, Claussen U, Starke H Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res 2004, 107:55-67.
2. Liehr T, Mrasek K, Weise A, et al. Small supernumerary marker chromosomes - progress towards a genotype-phenotype correlation. Cytogenet Genome Res 2006, 112:23-34.
3. Liehr T Characterization of prenatally assessed de novo small supernumerary marker chromosomes by molecular cytoge-netics. Methods Mol Biol 2008, 444:27-38.
4. Liehr T, Ewers E, Kosyakova N, et al. Handling small supernumerary marker chromosomes in prenatal diagnostics. Expert Rev Mol Diagn 2009, 9:317-324.
5. Liehr T, Weise A Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int J Mol Med 2007, 19:719-731.
6. Viersbach R, Engels H, Gamerdinger U, Hansmann M Delineation of supernumerary marker chromosomes in 38 patients. Am J Med Genet 1998, 76:351-358.
7. Chen CP, Chern SR, Chang TY, et al. Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restriction. Prenat Diagn 2003, 23:40-43.
8. Chen CP, Lin CC, Su YN, et al. Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 18 and associated with a reciprocal translocation involving chromosomes 17 and 18. Taiwan J Obstet Gynecol 2010, 49:188-191.
9. Lin CC, Hsieh YY, Wang CH, et al. Prenatal detection and characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 22 with apparently normal phenotype. Prenat Diagn 2006, 26:898-902.
10. Chien SC, Chen CP, Lin CC, Huang LC, Hsieh CT, Tsai FJ Prenatal diagnosis of mos45,X/46,X,+mar in a fetus with normal male external genitalia and a literature review. Taiwan J Obstet Gynecol 2009, 48:292-295.
11. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002, 30:e57.
12. Van Opstal D, Boter M, de Jong D, et al. Rapid aneu-ploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples. Eur J Hum Genet 2009, 17:112-121.
13. Sellner LN, Taylor GR MLPA and MAPH: new techniques for detection of gene deletions. Hum Mutat 2004, 23:413-419.
14. Crolla JA, Youings SA, Ennis S, Jacobs PA Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited. Eur J Hum Genet 2005, 13:154-160.
15. McCormick MK, Schinzel A, Petersen MB, et al. Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21. Genomics 1989, 5:325-331.
16. Korenberg JR, Chen XN, Schipper R, et al. Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc Natl Acad Sci USA 1994, 91:4997-5001.
17. Liehr T Small supernumerary marker chromosome database. sSMC derived from chromosome 21 [Date accessed: 6 June 2010]. http://www.med.uni-jena.de/fish/sSMC/00START.htm.
18. Baldwin EL, May LF, Justice AN, Martin CL, Ledbetter DH Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues. Am J Hum Genet 2008, 82:398-410.