Supernumerary marker chromosome 15 in a male with azoospermia and open bite deformity

Asian Journal of Andrology

Volumn 11, Issue 5, 2009, Pages 617-622

  Koç, Altuǧ ^a   Onur, S Ödül ^b   Ergün, Mehmet Ali ^a   Perçin, E Ferda ^a  

^a GAZI UNIVERSITY   (Turkey)

^b NONE   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AZOOSPERMIA; C BANDING; CASE REPORT; CHROMOSOME 15; CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION Y; CHROMOSOME MARKER; CHROMOSOME NOR; CYTOGENETICS; DYSMORPHISM; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ASSOCIATION; HAPPY PUPPET SYNDROME; HUMAN; HUMAN TISSUE; KARYOTYPE; MALE; MALOCCLUSION; PERIPHERAL LYMPHOCYTE; PHENOTYPE; PRADER WILLI ANGELMAN SYNDROME CRITICAL REGION; PRADER WILLI SYNDROME; RECURRENT DISEASE; SPONTANEOUS ABORTION; SUPERNUMERARY MARKER CHROMOSOME 15; TERATOLOGY; TESTIS BIOPSY; UROGRAPHY;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ANEUPLOIDY; AZOOSPERMIA; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 15; GENETIC MARKERS; HUMANS; MALE; MALOCCLUSION, ANGLE CLASS II; OPEN BITE; PHENOTYPE; TOOTH, SUPERNUMERARY;

EID: 70349160789     PISSN: 1008682X     EISSN: 17457262     Source Type: Journal    
DOI: 10.1038/aja.2009.37     Document Type: Article

References (21)

1. Roberts SE, Maggouta F, Thomas NS, Jacobs PA, Crolla JA. Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity. Am J Hum Genet 2003; 73: 1061-72.
2. Duncan AM, Macdonald A, Brown CJ, Wolff D, Willard HF, et al. Characterization of a small supernumerary ring X chromosome by fluorescence in situ hybridization. Am J Med Genet 1993; 47: 1153-6.
3. Liehr T, Claussen U, Starke H. Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res 2004; 107: 55-67.
4. Liehr T, Brude E, Gillessen-Kaesbach G, König R, Mrasek K, et al Prader-Willi syndrome with a karyotype 47, XY, + min(15) (pter→q11.1:) and maternal UPD 15--case report plus review of similar cases. Eur J Med Genet 2005; 48: 175-81.
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: 719-31.
6. Karaman B, Aytan M, Yilmaz K, Toksoy G, Onal EP, et al. The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey. Eur J Med Genet 2006; 49: 207-14.
7. Cotter PD, Ledesma CT, Dietz LG, Pusso S, Wohlferd MM, et al. Prenatal diagnosis of supernumerary marker 15 chromosomes and exclusion of uniparental disomy for chromosome 15. Prenat Diagn 1999; 19: 721-6.
8. Dennis NR, Veltman MW, Thompson R, Craig E, Bolton PF, et al. Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13. Am J Med Genet A 2006; 140: 434-41.
9. Eggermann K, Mau UA, Bujdosó G, Koltai E, Engels H, et al. Supernumerary marker chromosomes derived from chromosome 15: Analysis of 32 new cases. Clin Genet 2002; 62: 89-93.
10. Kumar C, Kleyman SM, Samonte RV, Verma RS. Marker chromosomes in fetal loss. Hum Reprod 1997; 12: 1321-4.
11. Manvelyan M, Riegel M, Santos M, Fuster C, Pellestor F, et al. Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature. Int J Mol Med 2008; 21: 705-14.
12. Borelina D, Esperante S, Gutnisky V, Ferreiro V, Ferrer M, et al. Supernumerary marker 15 chromosome in a patient with Prader-Willi syndrome. Clin Genet 2004; 65: 242-3.
13. Mann SM, Wang NJ, Liu DH, Wang L, Schultz RA, et al. Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: Another mechanism for partial hexasomy. Hum Genet 2004; 115: 104-11.
14. Huang XL, de Michelena MI, Mark HF, Harston R, Benke PJ, et al. Characterization of an analphoid supernumerary marker chromosome derived from 15q25→qter using high-resolution CGH and multiplex FISH analyses. Clin Genet 2005; 68: 513-9.
15. Cheng SD, Spinner NB, Zackai EH, Knoll JH. Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. Am J Hum Genet 1994; 55: 753-9.
16. Rineer S, Finucane B, Simon EW. Autistic symptoms among children and young adults with isodicentric chromosome 15. Am J Med Genet 1998; 81: 428-33.
17. McGinniss MJ, Brown DH, Burke LW, Mascarello JT, Jones MC. Ring chromosome X in a child with manifestations of Kabuki syndrome. Am J Med Genet 1997; 70: 37-42.
18. Cockwell AE, Dávalos IP, Rivera HR, Crolla JA. FISH characterisation of dynamic mosaicism involving an inv dup(15) in a patient with mental retardation. Am J Med Genet 2001; 103: 289-94.
19. Battaglia A. The inv dup(15) or idic(15) syndrome: A clinically recognisable neurogenetic disorder. Brain Dev. 2005; 27(5): 365-9.
20. Zou YS, McGrann PS, Uphoff TS, Van Dyke DL. A case of mosaic supernumerary ring chromosome 15 with two copies of the segment 15p11.1-q14. Am J Med Genet A 2006; 140: 1663-8.
21. Storm AL, Johnson JM, Lammer E, Green GE, Cunniff C. Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds. Am J Med Genet A 2005; 138A: 141-5.