Presence of harmless small supernumerary marker chromosomes hampers molecular genetic diagnosis: A case report

Molecular Medicine Reports

Volumn 3, Issue 4, 2010, Pages 571-574

  Nelle, Heike ^a   Schreyer, Isolde ^a   Ewers, Elisabeth ^a   Mrasek, Kristin ^a   Kosyakova, Nadezda ^a   Merkas, Martina ^a,d   Hamid, Ahmed Basheer ^a   Fahsold, Raimund ^b   Ujfalusi, Anikó ^e   Anderson, Jasen ^f   Rubtsov, Nikolai ^g   Küchler, Alma ^c   Von Eggeling, Ferdinand ^a   Hentschel, Julia ^a   Weise, Anja ^a   Liehr, Thomas ^a  

^a JENA UNIVERSITY HOSPITAL   (Germany)

^b Middle German Practice Group   (Germany)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

^d UNIVERSITY OF ZAGREB   (Croatia)

^e UNIVERSITY OF DEBRECEN   (Hungary)

^f SULLIVAN NICOLAIDES PATHOLOGY   (Australia)

^g INSTITUTE OF CYTOLOGY AND GENETICS   (Russian Federation)

Author keywords

Fragile X syndrome; Small supernumerary marker chromosome; Unclear mental retardation

Indexed keywords

ARTICLE; CASE REPORT; CHILD; FLUORESCENCE IN SITU HYBRIDIZATION; FRAGILE X SYNDROME; HEAD CIRCUMFERENCE; HETEROCHROMATIN; HETEROZYGOTE; HUMAN; MALE; MENTAL DEFICIENCY; METAPHASE CHROMOSOME; MOLECULAR GENETICS; PHENOTYPE; PREGNANCY; PRESCHOOL CHILD; SISTER CHROMATID; SMALL SUPERNUMERARY MARKER CHROMOSOME; SUPERNUMERARY CHROMOSOME; UNIPARENTAL DISOMY;

EID: 77956701096     PISSN: 17912997     EISSN: 17913004     Source Type: Journal    
DOI: 10.3892/mmr_00000299     Document Type: Article

References (6)

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2. Liehr T, Mrasek K, Weise A, Dufke A, Rodríguez L, Martínez Guardia N, Sanchís A, Vermeesch JR, Ramel C, Polityko A, Haas OA, Anderson J, Claussen U, von Eggeling F and Starke H: Small supernumerary marker chromosomes - progress towards a genotype-phenotype correlation. Cytogenet Genome Res 112: 23-34, 2006. (Pubitemid 41579452)
3. Liehr T: Small supernumerary marker chromosomes (sSMC). Institute of Human Genetics and Anthropology, University of Jena: http://www.med.uni-jena.de/ fish/sSMC/00START.htm. Accessed Oct 23, 2010.
4. D'Hulst C and Kooy RF: Fragile X syndrome: from molecular genetics to therapy. J Med Genet 46: 577-584, 2009.
5. Trifonov V, Seidel J, Starke H, Martina P, Beensen V, Ziegler M, Hartmann I, Heller A, Nietzel A, Claussen U and Liehr T: Enlarged chromosome 13 p-arm hiding a cryptic partial trisomy 6p22.2-pter. Prenat Diagn 23: 427-430, 2003.
6. Bartels I, Schlueter G, Liehr T, von Eggeling F, Starke H, Glaubitz R and Burfeind P: Supernumerary small marker chromosome (SMC) and uniparental disomy 22 in a child with confined placental mosaicism of trisomy 22: trisomy rescue due to marker chromosome formation. Cytogenet Genome Res 101: 103-105, 2003.