Hypergonadotropic hypogonadism in a patient with inv ins (2;4)

International Journal of Andrology

Volumn 32, Issue 3, 2009, Pages 226-230

  Tzschach, A ^a   Ramel, C ^b   Kron, A ^c   Seipel, B ^c   Wuster C ^d   Cordes, U ^d   Liehr, T ^e   Hoeltzenbein, M ^a   Menzel, C ^a   Ropers, H H ^a   Ullmann, R ^a   Kalscheuer, V ^a   Decker, J ^c   Steinberger, D ^c  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b Practice of Human Genetics   (Germany)

^c Bioscientia Center for Human Genetics   (Germany)

^d Endocrinology and Internal Medicine   (Germany)

^e FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

Author keywords

Array CGH; Azoospermia; Balanced chromosome aberration; Hypergonadotropic hypogonadism; Insertional translocation; Primary hypogonadism

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 2P; CHROMOSOME 4Q; CHROMOSOME INSERTION; CHROMOSOME INVERSION; CHROMOSOME TRANSLOCATION 2; CHROMOSOME TRANSLOCATION 4; COMPARATIVE GENOMIC HYBRIDIZATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; HUMAN; HUMAN CELL; HYPERGONADOTROPIC HYPOGONADISM; LSM6 GENE; MALE; NUCLEOTIDE SEQUENCE; PCDH10 GENE; PRIORITY JOURNAL; SLC10A7;

ADULT; CADHERINS; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 4; HUMANS; HYPOGONADISM; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; ORGANIC ANION TRANSPORTERS, SODIUM-DEPENDENT; RNA-BINDING PROTEINS; SYMPORTERS; TRANSLOCATION, GENETIC;

EID: 65549150457     PISSN: 01056263     EISSN: 13652605     Source Type: Journal    
DOI: 10.1111/j.1365-2605.2007.00839.x     Document Type: Article

References (13)

1. Bojesen, A. Gravholt, C. H. (2007) Klinefelter syndrome in clinical practice. Nature Clinical Practice Urology 4, 192 204. (Pubitemid 46567152)
2. Bugge, M., Bruun-Petersen, G., Brondum-Nielsen, K., Friedrich, U., Hansen, J., Jensen, G. et al. (2000) Disease associated balanced chromosome rearrangements: a resource for large scale genotype-phenotype delineation in man. Journal of Medical Genetics 37, 858 865.
3. Erdogan, F., Chen, W., Kirchhoff, M., Kalscheuer, V., Hultschig, C., Mueller, I. et al. (2006) Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. Cytogenetic and Genome Research 115, 247 253.
4. Fickelscher, I., Liehr, T., Watts, K., Bryant, V., Barber, J. C., Heidemann, S., Siebert, R., Hertz, J. M., Tumer, Z. Simon Thomas, N. (2007) The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity. American Journal of Human Genetics 81, 847 856. (Pubitemid 47596553)
5. Hughes, P. J., Edwards, J. M., Ridler, M. A. Lane, R. J. (1993) A balanced autosomal translocation (3;9) associated with primary hypogonadism and dorsal spine stenosis. Clinical Genetics 43, 44 45. (Pubitemid 23083885)
6. Lanfranco, F., Kamischke, A., Zitzmann, M. Nieschlag, E. (2004) Klinefelter's syndrome. Lancet 364, 273 283. (Pubitemid 38942818)
7. Liehr, T., Heller, A., Starke, H., Rubtsov, N., Trifonov, V., Mrasek, K., Weise, A., Kuechler, A. Claussen, U. (2002) Microdissection based high resolution multicolor banding for all 24 human chromosomes. International Journal of Molecular Medicine 9, 335 339.
8. Mau-Holzmann, U. A. (2005) Somatic chromosomal abnormalities in infertile men and women. Cytogenetic and Genome Research 111, 317 336. (Pubitemid 41414485)
9. Nagase, T., Kikuno, R., Ishikawa, K. I., Hirosawa, M. Ohara, O. (2000) Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. DNA Research 7, 65 73.
10. Van Hemel, J. O. Eussen, H. J. (2000) Interchromosomal insertions. Identification of five cases and a review. Human Genetics 107, 415 432. (Pubitemid 32000411)
11. Velagaleti, G. V., Bien-Willner, G. A., Northup, J. K., Lockhart, L. H., Hawkins, J. C., Jalal, S. M., Withers, M., Lupski, J. R. Stankiewicz, P. (2005) Position effects due to chromosome breakpoints that map approximately 900 kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. American Journal of Human Genetics 76, 652 662. (Pubitemid 40432172)
12. Wirth, J., Nothwang, H. G., van der Maarel, S., Menzel, C., Borck, G., Lopez-Pajares, I. et al. (1999) Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes. Journal of Medical Genetics 36, 271 278. (Pubitemid 29161057)
13. Zahed, L., Oreibi, G., Azar, C. Salti, I. (2004) Ring chromosome 18q and jumping translocation 18p in an adult male with hypergonadotrophic hypogonadism. American Journal of Medical Genetics Part A 129, 25 28. (Pubitemid 38989039)