Tags

Type your tag names separated by a space and hit enter

A variant Klinefelter syndrome patient with an XXY/XX/XY karyotype studied by GTG-banding and fluorescence in situ hybridization.
Exp Mol Pathol. 1999 Sep; 67(1):50-6.EM

Abstract

Klinefelter syndrome is the first human sex chromosomal abnormality to be reported. The majority of Klinefelter syndrome patients have the XXY karyotype. Approximately 15% of Klinefelter patients, however, are mosaics with variable phenotypes. Among the variant Klinefelter genotypes are such karyotypes as XY/XXY and XX/XXY. The variation in phenotypes most likely depends on the number of abnormal cells and their location in body tissues. In this paper we report the case of a 42-year-old patient with Klinefelter syndrome and a rare variant mosaic XXY/XX karyotype initially identified by GTG-banding. This was confirmed by fluorescence in situ hybridization (FISH) using a dual-color X/Y probe. The patient presented with erectile dysfunction and few other physical findings. Thus, this case illustrates a rare variant of Klinefelter syndrome with a relatively mild phenotype. It also illustrates the utility of FISH as an adjunct to conventional cytogenetics in assessing the chromosome copy number in each cell line of a mosaic. In our case, FISH also detected the presence of a small population of cells with the XY karyotype not previously detected in the initial 30-cell GTG-banding analysis. Thus, through a combination of GTG-banding and FISH, the patient was determined to be an XXY/XX/XY mosaic. Given that most individuals with Klinefelter syndrome are infertile, and that these individuals may wish to reproduce with the aid of modern reproductive technology, such as testicular fine needle aspiration and intracytoplasmic sperm injection, it is important that accurate estimation of the frequency of abnormal cells be obtained for accurate risk estimation and genetic counseling, as recent studies in patients with mosaic Klinefelter syndrome revealed that germ cells with sex chromosomal abnormalities were nevertheless capable of completing meiosis.

Authors+Show Affiliations

Lifespan Academic Medical Center Cytogenetics Laboratory, Department of Pathology, Rhode Island Hospital, Providence, Rhode Island 02903, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

10493892

Citation

Mark, H F., et al. "A Variant Klinefelter Syndrome Patient With an XXY/XX/XY Karyotype Studied By GTG-banding and Fluorescence in Situ Hybridization." Experimental and Molecular Pathology, vol. 67, no. 1, 1999, pp. 50-6.
Mark HF, Bai H, Sotomayor E, et al. A variant Klinefelter syndrome patient with an XXY/XX/XY karyotype studied by GTG-banding and fluorescence in situ hybridization. Exp Mol Pathol. 1999;67(1):50-6.
Mark, H. F., Bai, H., Sotomayor, E., Mark, S., Zolnierz, K., Airall, E., & Sigman, M. (1999). A variant Klinefelter syndrome patient with an XXY/XX/XY karyotype studied by GTG-banding and fluorescence in situ hybridization. Experimental and Molecular Pathology, 67(1), 50-6.
Mark HF, et al. A Variant Klinefelter Syndrome Patient With an XXY/XX/XY Karyotype Studied By GTG-banding and Fluorescence in Situ Hybridization. Exp Mol Pathol. 1999;67(1):50-6. PubMed PMID: 10493892.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A variant Klinefelter syndrome patient with an XXY/XX/XY karyotype studied by GTG-banding and fluorescence in situ hybridization. AU - Mark,H F, AU - Bai,H, AU - Sotomayor,E, AU - Mark,S, AU - Zolnierz,K, AU - Airall,E, AU - Sigman,M, PY - 1999/9/24/pubmed PY - 1999/9/24/medline PY - 1999/9/24/entrez SP - 50 EP - 6 JF - Experimental and molecular pathology JO - Exp. Mol. Pathol. VL - 67 IS - 1 N2 - Klinefelter syndrome is the first human sex chromosomal abnormality to be reported. The majority of Klinefelter syndrome patients have the XXY karyotype. Approximately 15% of Klinefelter patients, however, are mosaics with variable phenotypes. Among the variant Klinefelter genotypes are such karyotypes as XY/XXY and XX/XXY. The variation in phenotypes most likely depends on the number of abnormal cells and their location in body tissues. In this paper we report the case of a 42-year-old patient with Klinefelter syndrome and a rare variant mosaic XXY/XX karyotype initially identified by GTG-banding. This was confirmed by fluorescence in situ hybridization (FISH) using a dual-color X/Y probe. The patient presented with erectile dysfunction and few other physical findings. Thus, this case illustrates a rare variant of Klinefelter syndrome with a relatively mild phenotype. It also illustrates the utility of FISH as an adjunct to conventional cytogenetics in assessing the chromosome copy number in each cell line of a mosaic. In our case, FISH also detected the presence of a small population of cells with the XY karyotype not previously detected in the initial 30-cell GTG-banding analysis. Thus, through a combination of GTG-banding and FISH, the patient was determined to be an XXY/XX/XY mosaic. Given that most individuals with Klinefelter syndrome are infertile, and that these individuals may wish to reproduce with the aid of modern reproductive technology, such as testicular fine needle aspiration and intracytoplasmic sperm injection, it is important that accurate estimation of the frequency of abnormal cells be obtained for accurate risk estimation and genetic counseling, as recent studies in patients with mosaic Klinefelter syndrome revealed that germ cells with sex chromosomal abnormalities were nevertheless capable of completing meiosis. SN - 0014-4800 UR - https://www.unboundmedicine.com/medline/citation/10493892/A_variant_Klinefelter_syndrome_patient_with_an_XXY/XX/XY_karyotype_studied_by_GTG_banding_and_fluorescence_in_situ_hybridization_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0014-4800(99)92244-X DB - PRIME DP - Unbound Medicine ER -