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The Journal of Maternal-Fetal & Neonatal Medicine Volume 25, 2012 - Issue 2
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Short Reports

Normal prenatal ultrasound findings in a case with de novo mosaic small supernumerary marker chromosome 18 – how to counsel?

Christel Eckmann-ScholzDepartment of Gynecology and Obstetrics, Christian-Albrechts-University Kiel and Universitätsklinikum Schleswig-Holstein, Campus Kiel, Kiel, GermanyCorrespondence[email protected]
,
Holger TönniesInstitute of Human Genetics, Christian-Albrechts-University Kiel and Universitätsklinikum Schleswig-Holstein, Campus Kiel, Kiel, Germany
,
Thomas LiehrJena University Hospital, Institute of Human Genetics Jena, Germany
,
Stefan GeskInstitute of Human Genetics, Christian-Albrechts-University Kiel and Universitätsklinikum Schleswig-Holstein, Campus Kiel, Kiel, Germany
,
Walter JonatInstitute of Human Genetics, Christian-Albrechts-University Kiel and Universitätsklinikum Schleswig-Holstein, Campus Kiel, Kiel, Germany
&
Almuth CaliebeJena University Hospital, Institute of Human Genetics Jena, Germany
Pages 200-202 | Received 19 Feb 2011, Accepted 22 Feb 2011, Published online: 08 Apr 2011

References

  • Liehr T, Claussen U, Starke H. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res 2004;107:55–67.
  • 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.
  • Liehr T. sSMC homepage. http://www.med.uni-jena.de/fish/sSMC/00START.htm (accessed February 2011).
  • Martín-Subero JI, Harder L, Gesk S, Schlegelberger B, Grote W, Martinez-Climent JA, Dyer MJ, Novo FJ, Calasanz MJ, Siebert R. Interphase FISH assays for the detection of translocations with breakpoints in immunoglobulin light chain loci. Int J Cancer 2002; 98:470–474.
  • Ventura RA, Martin-Subero JI, Jones M, McParland J, Gesk S, Mason DY, Siebert R. FISH analysis for the detection of lymphoma-associated chromosomal abnormalities in routine paraffin-embedded tissue. Review. J Mol Diagn 2006;8:141–151.
  • Liehr T, Mrasek K, Weise A, Dufke A, Rodríguez L, Martínez Guardia N, Sanchís A, Vermeesch JR, Ramel C, Polityko A, et al. von Eggeling F, Starke H. Small supernumerary marker chromosomes – progress towards a genotype-phenotype correlation. Cytogenet Genome Res 2006;112:23–34.
  • 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.
  • Backx L, Van Esch H, Melotte C, Kosyakova N, Starke H, Frijns JP, Liehr T, Vermeesch JR. Array painting using microdissected chromosomes to map chromosomal breakpoints. Genome Res 2007;116:158–166.
  • Rodríguez L, Liehr T, Mrasek K, Mansilla E, Martínez-Fernández ML, Garcia A, Martinez-Frias ML. Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review. Am J Med Genet 2007;143:2727–2732.
  • Sheth F, Andrieux J, Sheth J. Supernumerary marker chromosome in a child with microcephaly and mental retardation. Indian Pediatr 2010;47:277–279.

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