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Journal of Assisted Reproduction and Genetics

Erschienen in:

01.05.2008 | Genetics

Chromosome heteromorphisms: an impact on infertility

verfasst von: Feride Iffet Sahin, Zerrin Yilmaz, Ozge Ozalp Yuregir, Tugce Bulakbasi, Ozge Ozer, Hulusi Bulent Zeyneloglu

Erschienen in: Journal of Assisted Reproduction and Genetics | Ausgabe 5/2008

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Abstract

Introduction

Cytogenetic heteromorphisms are described as heritable variations at specific chromosomal regions without a proven impact on phenotype.

Materials and methods

We compared the presence of chromosome heteromorphisms in the karyotypes of two patient groups. The first group of patients consisted of 276 individuals of 138 infertile couples. The second group, consisted of 1,130 amniocentesis samples. This group was considered to be a sample of the fertile population, as the fetus being karyotyped is the result of a spontaneous pregnancy. Fetal karyotyping was made due to the standard indications for prenatal diagnosis, such as abnormal maternal serum screening results.

Results and discussion

Eighteen infertile patients (6.52%) and twenty fetuses (1.77%) were found to have chromosome heteromorphisms. The difference between the two groups was statistically significant (p < 0.0001).

Conclusion

These results are consistent with other similar studies that suggest the yet undefined relationship between chromosome heteromorphisms and infertility.

Babu A, Agarwal AK, Verma S. A new approach in recognition of heterochromatic regions of human chromosomes by means of restriction endonucleases. Am J Hum Genet 1998;42:60–5.

Brothman AR, Schneider NR, Saikevych I, Cooley LD, Butler MG, Patil S, et al. Cytogenetics Resource Committee, College of American Pathologists/American College of Medical Genetics. Cytogenetic heteromorphisms: Survey results and reporting practices of Giemsa-band regions that we have pondered for years. Arch Pathol Lab Med 2006;130:947–9.PubMed

Cortés-Gutiérrez EI, Cerda-Flores RM, Dávila-Rodríguez MI, Hernández-Herrera R, Vargas-Villarreal J, Leal-Garza CH. Chromosomal abnormalities and polymorphisms in Mexican infertile men. Arch Androl 2004;50:261–5.PubMedCrossRef

Nakamura Y, Kitamura M, Nishimura K, Koga M, Kondoh N, Takeyama M, et al. Chromosomal variants among 1790 infertile men. Int J Urol 2001;8:49–52.PubMedCrossRef

Yakin K, Balaban B, Urman B. Is there a possible correlation between chromosomal variants and spermatogenesis? Int J Urol 2005;12:984–9.PubMedCrossRef

Verma RS, Babu A. Human chromosomes: principles and techniques, Chapter 3. 2nd ed. New York: McGraw Hill; 1995. p. 78–86.

ISCN. An international system for human cytogenetic nomenclature. Shaffer LG, Tommerup N, editors. Basel: Karger; 2005.

Babu A, Verma RS. Characterization of human chromosomal constitutive heterochromatin. Can J Genet Cytol 1986 Oct;28(5):631–44.PubMed

Wyandt HE, Tonk VS. Atlas of human chromosome heteromorphisms. Dordrecht: Kluwer; 2004. p. 33–44.

10.

Shah K, Sivapalan G, Gibbons N, Tempet H, Griffin DK. The genetic basis of infertility. Reproduction 2003;126:13–25.PubMedCrossRef

11.

Morel F, Douet Guilbert N, Le Bris MJ, Amice V, Le Martelot MT, Roche S, et al. Chromosomal abnormalities in couples undergoing intracytoplasmic sperm injection. A study of 370 couples and review of the literature. Int J Androl 2004;27(3):178–82.PubMedCrossRef

12.

Lissitsina J, Mikelsaar R, Punab M. Cytogenetic analyses in infertile men. Arch Androl 2006;52(2):91–5.PubMedCrossRef

13.

Madon PF, Athalye AS, Parikh FR. Polymorphic variants on chromosomes probably play a significant role in infertility. Reprod Biomed Online 2005;11(6):726–32.PubMedCrossRef

14.

Yilmaz Z, Sahin FI, Tarim E, Kuscu E. Triploides In first and second trimester pregnancies in Turkey. Balkan J Med Genet 2007;10(2):71–75.

15.

Codina-Pascual M, Navarro J, Oliver-Bonet M, Kraus J, Speicher MR, Arango O, et al. Behaviour of human heterochromatic regions during the synapsis of homologous chromosomes. Hum Reprod 2006;21(6):1490–7.PubMedCrossRef

16.

Starke H, Seidel J, Henn W, Reichardt S, Volleth M, Stumm M, et al. Homologous sequences at human chromosome 9 bands p12 and q13–21.1 are involved in different patterns of pericentric rearrangements. Eur J Hum Genet 2002;10(12):790–800.PubMedCrossRef

Titel: Chromosome heteromorphisms: an impact on infertility
verfasst von: Feride Iffet Sahin
Zerrin Yilmaz
Ozge Ozalp Yuregir
Tugce Bulakbasi
Ozge Ozer
Hulusi Bulent Zeyneloglu
Publikationsdatum: 01.05.2008
Verlag: Springer US
Erschienen in: Journal of Assisted Reproduction and Genetics / Ausgabe 5/2008
Print ISSN: 1058-0468
Elektronische ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-008-9216-3

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Chromosome heteromorphisms: an impact on infertility