Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature

International Journal of Molecular Medicine

Volumn 21, Issue 6, 2008, Pages 705-714

  Manvelyan, Marina ^a,b   Riegel, Mariluce ^c   Santos, Monica ^d   Fuster, Carme ^d   Pellestor, Franck ^e   Mazaurik, Marie Luise ^f   Schulze, Bernt ^g   Polityko, Anna ^h   Tittelbach, Hanne ⁱ   Reising Ackermann, Gisela ^j   Belitz, Britta ^k   Hehr, Ute ^l   Kelbova, Christina ^m   Volleth, Marianne ⁿ   Gödde, Elisabeth ^o   Anderson, Jasen ^p   Küpferling, Peter ^q   Köhler, Sigrid ^r   Duba, Hans Christoph ^s   Dufke, Andreas ^t   Aktas, Dilek ^u   Martin, Thomas ^v   Schreyer, Isolde ^a   Ewers, Elisabeth ^a   Reich, Daniela ^a   Mrasek, Kristin ^a   Weise, Anja ^a   Liehr, Thomas ^a   more..

^a Institute of Human Genetics and Anthropology   (Germany)

^b YEREVAN STATE UNIVERSITY   (Armenia)

^c UNIVERSITY OF ZURICH   (Switzerland)

^d UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^e CNRS   (France)

^f Practice of Prenatal Medicine and Genetics   (Germany)

^g Practice for Human Genetics   (Germany)

^h National Medical Center Mother and Child   (Belarus)

ⁱ Practice of Human Genetics   (Germany)

^j Institute of Human Genetics   (Germany)

^k Practice of Human Genetics   (Germany)

^l Laboratory of Human Genetics   (Germany)

^m Practice of Human Genetics   (Germany)

ⁿ Institute of Human Genetics   (Germany)

^o Practice of Human Genetics   (Germany)

^p SULLIVAN NICOLAIDES PATHOLOGY   (Australia)

^q Practice of Human Genetics   (Germany)

^r Practice of Human Genetics   (Germany)

^s Institute for Prenatal Medicine   (Austria)

^t Institute of Human Genetics   (Germany)

^u HACETTEPE UNIVERSITY   (Turkey)

^v Medical Practice of Human Genetics   (Germany)

more..

Author keywords

De novo; Euchromatic variations; Familial; Fertility problems; Molecular cytogenetics; Small supernumerary marker chromosomes

Indexed keywords

ARTICLE; AZOOSPERMIA; CHROMOSOME 14; CHROMOSOME 15; CHROMOSOME ANALYSIS; CHROMOSOME LOSS; CHROMOSOME MARKER; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE POOL; GENETIC GAIN; HETEROZYGOTE; HUMAN; INFERTILITY; INTRACYTOPLASMIC SPERM INJECTION; MALE; OLIGOSPERMIA; PATHOGENESIS; PRIORITY JOURNAL; SUPERNUMERARY CHROMOSOME; ADULT; AMENORRHEA; CHROMOSOME ABERRATION; CHROMOSOME BANDING PATTERN; CHROMOSOME PAINTING; EUCHROMATIN; FEMALE INFERTILITY; GENETIC VARIABILITY; GENETICS; GENOTYPE; KARYOTYPING; LITERATURE; MALE INFERTILITY; METHODOLOGY; MOLECULAR EVOLUTION; PHENOTYPE; RECURRENT ABORTION;

ABORTION, HABITUAL; ADULT; AMENORRHEA; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOME PAINTING; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 15; CYTOGENETIC ANALYSIS; EUCHROMATIN; EVOLUTION, MOLECULAR; FEMALE; GENOTYPE; HUMANS; INFERTILITY; INFERTILITY, FEMALE; INFERTILITY, MALE; KARYOTYPING; MALE; PHENOTYPE; REVIEW LITERATURE AS TOPIC; VARIATION (GENETICS);

EID: 47649097067     PISSN: 11073756     EISSN: None     Source Type: Journal    
DOI: 10.3892/ijmm.21.6.705     Document Type: Article

References (21)

1. Shah K, Sivapalan G, Gibbons N, Tempest H and Griffin DK: The genetic basis of infertility. Reproduction 126: 13-25, 2003.
2. Uehara S, Hashiyada M, Sato K, Sato Y, Fujimori K and Okamura K: Preferential X-chromosome inactivation in women with idiopathic recurrent pregnancy loss. Fertil Steril 76: 908-914, 2001.
3. Liehr T, Claussen U and Starke H: Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res 107: 55-67, 2004.
4. Liehr T and Weise A: Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int J Mol Med 19: 719-731, 2007.
5. Seabright M: A rapid banding technique for human chromosomes. Lancet 2: 971-972, 1971.
6. Nietzel A, Rocchi M, Starke H, Heller A, Fiedler W, Wlodarska I, Loncarevic IF, Beensen V, Claussen U and Liehr T: A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH). Hum Genet 108: 199-204, 2001.
7. Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, Volleth M, Albrecht B, Mitulla B, Trappe R, Bartels I, Adolph S, Dufke A, Singer S, Stumm M, Wegner RD, Seidel J, Schmidt A, Kuechler A, Schreyer I, Claussen U, von Eggeling F and Liehr T: Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum Genet 114: 51-67, 2003.
8. Liehr T: sSMC-database. http://markerchromosomes.ag.vu or http://www.med.uni-jena.de/fish/sSMC/00START.htm.
9. Liehr T, Starke H, Senger G, Melotte C, Weise A and Vermeesch JR: Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC. Am J Med Genet A 14: 46-51, 2006.
10. Barber JC: Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J Med Genet 42: 609-629, 2005.
11. Liehr T, Mrasek K, Weise A, Dufke A, Rodriguez L, Martinez Guardia N, Sanchis 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.
12. Liehr T: Familial small supernumerary marker chromosomes are predominantly inherited via the maternal line. Genet Med 8: 459-462, 2006.
13. Eichenlaub-Ritter U, Adler ID, Carere A and Pacchierotti F: Gender differences in germ-cell mutagenesis and genetic risk. Environ Res 104: 22-36, 2007.
14. Morel F, Roux C and Bresson JL: Segregation of sex chromosomes in spermatozoa of 46,XY/47,XXY men by multicolour fluorescence in-situ hybridization. Mol Hum Reprod 6: 566-570, 2000.
15. Dalpra L, Giardino D, Finelli P, Corti C, Valtorta C, Guerneri S, Ilardi P, Fortuna R, Coviello D, Nocera G, Amico FP, Martinoli E, Sala E, Villa N, Crosti F, Chiodo F, di Cantogno LV, Savin E, Croci G, Franchi F, Venti G, Donti E, Migliori V, Pettinari A, Bonifacio S, Centrone C, Torricelli F, Rossi S, Simi P, Granata P, Casalone R, Lenzini E, Artifoni L, Pecile V, Barlati S, Bellotti D, Caufin D, Police A, Cavani S, Piombo G, Pierluigi M and Larizza L: Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratories. Genet Med 7: 620-625, 2005.
16. Palestis BG, Burt A, Jones RN and Trivers R: B chromosomes are more frequent in mammals with acrocentric karyotypes: support for the theory of centromeric drive. Proc Biol Sci 271: S22-S24, 2004.
17. Paoloni-Giacobino A, Kern I, Rumpler Y, Djlelati R, Morris MA, Dahoun SP: Familial t(6;21)(p21.1;p13) translocation associated with male-only sterility. Clin Genet 58: 324-328, 2000.
18. Mau-Holzmann UA: Somatic chromosomal abnormalities in infertile men and women. Cytogenet Genome Res 111: 317-336, 2005.
19. McNerlan SE, Morrison PJ, McClure N and Nevin NC: A supernumerary chromosome 20, identified by FISH, in a male with azoospermia - cause or coincidence? Am J Med Genet A 117: 188-190, 2003.
20. Crolla JA: FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature. Am J Med Genet 75: 367-381, 1998.
21. Shaffer LG and Tommerup N (eds): ISCN 2005. An International System for Human Cytogenetic Nomenclature. S Karger, Basel, 2005.