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Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype.
Mol Med Rep. 2012 Aug; 6(2):293-6.MM

Abstract

Abnormalities involving sex chromosomes account for approximately 0.5% of live births. The phenotypes of individuals with mosaic cell lines that exhibit structural aberrations of the X and Y chromosomes are variable and difficult to predict. Phenotypes associated with sex chromosome mosaicism vary from females with Turner syndrome to males with infertility, and include individuals with ambiguous genitalia. In this study, we report a 17-year-old male with phenotypic features of Klinefelter syndrome with an isodicentric Y chromosome and a final karyotype of 45,X[4]/46,X,idic(Y)(q11.21)[95]/47,XX,+idic(Y)(q11.21)[1]. Application of high resolution molecular cytogenetic techniques as well as molecular studies revealed two copies of the sex-determining region of Y chromosome (SRY) gene and two centromers. Additionally, the breakpoint in Yq11.21 was narrowed down between positions 13.4 and 14.3 MB (hg18). We present a patient with partial disomy of Ypter to Yq11.21 in the majority of the patient cells, showing phenotypic features of Klinefelter syndrome. The syndrome may have occurred due to a more prominent presence of the cell line 47,XX,+idic(Y)(q11.21) detected only once in 1% of the peripheral blood cells. This finding may prove helpful in similar cases with symptoms of Klinefelter syndrome, but which exhibit an absence of the cell line 47,XXY in peripheral blood.

Authors+Show Affiliations

Department of Molecular Biology and Biotechnology, Division of Human Genetics, Atomic Energy Commission of Syria, Damascus, Syria. ascientific@aec.org.syNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22664581

Citation

Al-Achkar, Walid, et al. "Detailed Analysis of an idic(Y)(q11.21) in a Mosaic Karyotype." Molecular Medicine Reports, vol. 6, no. 2, 2012, pp. 293-6.
Al-Achkar W, Wafa A, Liehr T, et al. Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype. Mol Med Rep. 2012;6(2):293-6.
Al-Achkar, W., Wafa, A., Liehr, T., Klein, E., & Moassass, F. (2012). Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype. Molecular Medicine Reports, 6(2), 293-6. https://doi.org/10.3892/mmr.2012.930
Al-Achkar W, et al. Detailed Analysis of an idic(Y)(q11.21) in a Mosaic Karyotype. Mol Med Rep. 2012;6(2):293-6. PubMed PMID: 22664581.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Detailed analysis of an idic(Y)(q11.21) in a mosaic karyotype. AU - Al-Achkar,Walid, AU - Wafa,Abdulsamad, AU - Liehr,Thomas, AU - Klein,Elisabeth, AU - Moassass,Faten, Y1 - 2012/05/29/ PY - 2011/11/30/received PY - 2012/02/13/accepted PY - 2012/6/6/entrez PY - 2012/6/6/pubmed PY - 2012/10/17/medline SP - 293 EP - 6 JF - Molecular medicine reports JO - Mol Med Rep VL - 6 IS - 2 N2 - Abnormalities involving sex chromosomes account for approximately 0.5% of live births. The phenotypes of individuals with mosaic cell lines that exhibit structural aberrations of the X and Y chromosomes are variable and difficult to predict. Phenotypes associated with sex chromosome mosaicism vary from females with Turner syndrome to males with infertility, and include individuals with ambiguous genitalia. In this study, we report a 17-year-old male with phenotypic features of Klinefelter syndrome with an isodicentric Y chromosome and a final karyotype of 45,X[4]/46,X,idic(Y)(q11.21)[95]/47,XX,+idic(Y)(q11.21)[1]. Application of high resolution molecular cytogenetic techniques as well as molecular studies revealed two copies of the sex-determining region of Y chromosome (SRY) gene and two centromers. Additionally, the breakpoint in Yq11.21 was narrowed down between positions 13.4 and 14.3 MB (hg18). We present a patient with partial disomy of Ypter to Yq11.21 in the majority of the patient cells, showing phenotypic features of Klinefelter syndrome. The syndrome may have occurred due to a more prominent presence of the cell line 47,XX,+idic(Y)(q11.21) detected only once in 1% of the peripheral blood cells. This finding may prove helpful in similar cases with symptoms of Klinefelter syndrome, but which exhibit an absence of the cell line 47,XXY in peripheral blood. SN - 1791-3004 UR - https://www.unboundmedicine.com/medline/citation/22664581/Detailed_analysis_of_an_idic_Y__q11_21__in_a_mosaic_karyotype_ L2 - http://www.spandidos-publications.com/mmr/6/2/293 DB - PRIME DP - Unbound Medicine ER -