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Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype.
Genet Couns. 2009; 20(2):173-9.GC

Abstract

To present the new karyotype with mixed gonadal dysgenesis, the aetiologic approach and difficulties in genetic counseling in mosaic sex chromosome disorders. We report a fourteen-year-old boy presented with slightly ambigious genitalia. Cytogenetic and fluorescence in situ hybridization investigations were carried out on his peripheral lymphocytes. As a result, three cell lines, 45,X, 46,X,idic(Y)(q11.2) and 46, XY were observed. A markedly higher percentage of Y-containing cells was observed in the blood (68%), which was not considered to be the major reason why the case did not have distinct ambiguous genitalia. We suggest that study of cytogenetic and molecular mosaicism involving sex chromosomes may help to further unravel the mysterious process in mixed gonadal dysgeneic patients.

Authors+Show Affiliations

Kayseri Education and Research Hospital, Department of Medical Genetics, Kayseri, Turkey. aocaglayan@erciyes.edu.trNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

19650415

Citation

Caglayan, A O., et al. "Mixed Gonadal Dysgenesis With 45,X/46,X,idic(Y)/46,XY,idic(Y) Karyotype." Genetic Counseling (Geneva, Switzerland), vol. 20, no. 2, 2009, pp. 173-9.
Caglayan AO, Demiryilmaz F, Kendirci M, et al. Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype. Genet Couns. 2009;20(2):173-9.
Caglayan, A. O., Demiryilmaz, F., Kendirci, M., Ozyazgan, I., Akalin, H., & Bittmann, S. (2009). Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype. Genetic Counseling (Geneva, Switzerland), 20(2), 173-9.
Caglayan AO, et al. Mixed Gonadal Dysgenesis With 45,X/46,X,idic(Y)/46,XY,idic(Y) Karyotype. Genet Couns. 2009;20(2):173-9. PubMed PMID: 19650415.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype. AU - Caglayan,A O, AU - Demiryilmaz,F, AU - Kendirci,M, AU - Ozyazgan,I, AU - Akalin,H, AU - Bittmann,S, PY - 2009/8/5/entrez PY - 2009/8/5/pubmed PY - 2009/9/29/medline SP - 173 EP - 9 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 20 IS - 2 N2 - To present the new karyotype with mixed gonadal dysgenesis, the aetiologic approach and difficulties in genetic counseling in mosaic sex chromosome disorders. We report a fourteen-year-old boy presented with slightly ambigious genitalia. Cytogenetic and fluorescence in situ hybridization investigations were carried out on his peripheral lymphocytes. As a result, three cell lines, 45,X, 46,X,idic(Y)(q11.2) and 46, XY were observed. A markedly higher percentage of Y-containing cells was observed in the blood (68%), which was not considered to be the major reason why the case did not have distinct ambiguous genitalia. We suggest that study of cytogenetic and molecular mosaicism involving sex chromosomes may help to further unravel the mysterious process in mixed gonadal dysgeneic patients. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/19650415/Mixed_gonadal_dysgenesis_with_45X/46Xidic_Y_/46XYidic_Y__karyotype_ L2 - http://www.diseaseinfosearch.org/result/3148 DB - PRIME DP - Unbound Medicine ER -