Mosaic Klinefelter Syndrome Research Articles

Incontinentia Pigmenti in a Male with Mosaic Klinefelter Syndrome: The Role of Fish Analysis

Incontinentia Pigmenti (IP) is an X‐linked dominant genodermatosis with cutaneous, skeletal, ocular, neurological, and dental abnormalities. It has been mapped to chromosome Xq28 encoding the NF‐kB essential modulator (NEMO). NEMO regulates many genes, such as those that prevent apoptosis. IP is usually lethal in males. However, patients with Klinefelter syndrome (47, XXY) are able to survive due to one normal X chromosome. We report a case of a male who presented after birth with multiple vesicles in a linear distribution on the calf progressing to persistent hyperpigmentation. At one month of age a punch biopsy showed verrucous hyperplasia with mild hypergranulosis, necrotic dyskeratinocytes and a lichenoid infiltrate composed of lymphocytes, eosinophils and melanophages. A diagnosis of IP was rendered. No additional physical findings were noted. The patient was evaluated for Klinefelter syndrome. While his karyotype was 46, XY by conventional cytogenetics, a dual color interphase FISH detected 92.5% 46, XY and 6.5% 47, XXY. Our patient’s unique genetic array allowed a mechanism to escape and otherwise fatal disorder. This case illustrates the potential utility of using FISH analysis to detect Klinefelter syndrome in a male patient with IP and normal conventional chromosomal analysis.

Birth of healthy male twins after intracytoplasmic sperm injection of frozen-thawed testicular spermatozoa from a patient with nonmosaic Klinefelter syndrome

Birth of healthy male twins after intracytoplasmic sperm injection of frozen-thawed testicular spermatozoa from a patient with nonmosaic Klinefelter syndrome

Segregation of sex chromosomes in spermatozoa of 46,XY/47,XXY men by multicolour fluorescence in-situ hybridization.

The sex chromosome disomy and diploidy rates on ejaculated spermatozoa from two patients with mosaic Klinefelter's syndrome were estimated, using X/Y/15 multicolour fluorescence in-situ hybridization (FISH). A 8/18 dual fluorescence in-situ hybridization analysis was also carried out. In triple FISH, a total of 1691 (patient 1) and 811 (patient 2) spermatozoa were analysed. Frequencies of cells with hyperhaploidies for sex chromosomes were 2. 01% and 3.45% for patients 1 and 2 respectively, with both patients showing a significantly increased incidence of 24,XY and 24,XX disomies and only patient 2 showing a significantly increased incidence of 24,YY disomy in comparison to the control (P < 0.001). The 46,XX diploidy rate in patient 1 was also significantly higher than the control (P < 0.01). The ratio of X-bearing to Y-bearing spermatozoa differed from the expected 1:1 ratio for only patient 1 (1.18:1). There was no significant difference for chromosomes 8, 15 or 18 disomy frequencies in comparison to those estimated in the control population. These results support the hypothesis that some 47,XXY cells are able to go through meiosis and form spermatozoa with an abnormal gonosomal complement. Thus, there is an increased risk, for these 46,XY/47,XXY men, of producing offspring with a gonosomal abnormality.

A Variant Klinefelter Syndrome Patient with an XXY/XX/XY Karyotype Studied by GTG-Banding and Fluorescence in Situ Hybridization

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 Kline felter 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.

O-121. Segregation of sex chromosomes in a Klinefelter patient (47,XXY)

With the recent advance in the techniques of assisted reproduction, it is now possible to overcome male infertility associated with severe oligospermia or azoospermia with alternatives other than sperm donation. This is the case for some patients carrying the Klinefelter syndrome with a somatic karyotype 46,XY/47,XXY or 47,XXY. Despite a deeply defective spermatogenesis in 47,XXY patients, intracouple fertilization can be achieved with the use of intracytoplasmic sperm injection (ICSI) (1). Therefore, one should consider the risk of transmitting an aneuploidy, which would be likely to involve the sex chromosomes but could also involve the autosomes. In patients carrying a mosaic Klinefelter syndrome (46,XY/ 47,XXY), previous studies of sex chromosome segregation by sperm karyotyping (2) or fluorescent in situ hybridization (FISH) (3) or HIS (4) have shown that the percentage of hyperhaploid spermatozoa (24,XY) ranged from 0.9% to 2.1%. In subjects carrying a homogeneous somatic karyotype 47,XXY, previous data have shown variable hyperhaploidies rates, ranging from 1.36% to 25%, as well as variable sex ratios (5–7). The aim of the present work was to collect more data in order to better evaluate the risk of sex chromosome aneuploidies in the spermatozoa (and in the potential offspring) of these patients. Using multicolor FISH, the segregation of the chromosomes X, Y, and 1 was analyzed in 502 spermatozoa from a sperm sample of a first 47,XXY patient, who was a candidate for ICSI. The percentage of hyperhaploid spermatozoa 24,XY was 3.6%, which represents more than 10 times this abnormality in control donors. The sex ratio (23X/23Y) was 1.12. This work confirms that a few germinal cells with a 47,XXY chromosomal constitution are able to achieve meiosis and spermiogenesis and produce mature spermatozoa. However, a high interindividual variability seems to appear when the data from the few published studies are compared. Indeed, the presence of a remaining spermatogenesis, the sex ratio and the percentage of spermatozoa carrying a sex chromosomes hyperhaploidy are different from one 47,XXY patient to another. Therefore, a study of the sex chromosome segregation in these patients seems to be appropriate when they are candidates for ICSI. Moreover, the segregation of the autosomes might also be disturbed, but this remains to be studied. It is under current investigation in the present case.

TESTICULAR TERATOMA IN A MAN WITH XX/XXY MOSAIC KLINEFELTER'S SYNDROME

No AccessJournal of UrologyClinical Urology: Case Reports1 May 1999TESTICULAR TERATOMA IN A MAN WITH XX/XXY MOSAIC KLINEFELTER'S SYNDROME SHINGO MATSUKI, ISOJI SASAGAWA, HIROSHI KAKIZAKI, YASUHIRO SUZUKI, and TERUHIRO NAKADA SHINGO MATSUKISHINGO MATSUKI More articles by this author , ISOJI SASAGAWAISOJI SASAGAWA More articles by this author , HIROSHI KAKIZAKIHIROSHI KAKIZAKI More articles by this author , YASUHIRO SUZUKIYASUHIRO SUZUKI More articles by this author , and TERUHIRO NAKADATERUHIRO NAKADA More articles by this author View All Author Informationhttps://doi.org/10.1016/S0022-5347(05)68964-1AboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail "TESTICULAR TERATOMA IN A MAN WITH XX/XXY MOSAIC KLINEFELTER'S SYNDROME." The Journal of Urology, 161(5), pp. 1573–1574 References 1 : Choriocarcinoma, thyrotoxicosis, and the Klinefelter syndrome. Cancer Genet. Cytogenet.1983; 9: 1. Google Scholar 2 : Bilateral testicular teratoma in Klinefelter's syndrome. Brit. J. Urol.1993; 72: 384. Google Scholar 3 : Simian papovavirus 40 transformation of cells from cancer patient with XY-XXY mosaic Klinefelter's syndrome. Cancer1970; 30: 1769. Google Scholar From the Department of Urology, Prefectural Nihonkai Hospital and Yamagata University School of Medicine, Yamagata, Japan© 1999 by American Urological Association, Inc.FiguresReferencesRelatedDetails Volume 161Issue 5May 1999Page: 1573-1574 Advertisement Copyright & Permissions© 1999 by American Urological Association, Inc.MetricsAuthor Information SHINGO MATSUKI More articles by this author ISOJI SASAGAWA More articles by this author HIROSHI KAKIZAKI More articles by this author YASUHIRO SUZUKI More articles by this author TERUHIRO NAKADA More articles by this author Expand All Advertisement PDF downloadLoading ...

Genetic Counseling in a Patient With XXY/XXXY/XY Mosaic Klinefelter's Syndrome: Estimate of Sex Chromosome Aberrations in Sperm Before Intracytoplasmic Sperm Injection

Genetic Counseling in a Patient With XXY/XXXY/XY Mosaic Klinefelter's Syndrome: Estimate of Sex Chromosome Aberrations in Sperm Before Intracytoplasmic Sperm Injection

Localization by venous sampling of occult chorionic gonadotropin- secreting tumor in a boy with mosaic Klinefelter's syndrome and precocious puberty

Localization by venous sampling of occult chorionic gonadotropin- secreting tumor in a boy with mosaic Klinefelter's syndrome and precocious puberty

High fertilization rate with intracytoplasmic sperm injection in mosaic Klinefelter's syndrome

International Journal of Gynecology & ObstetricsVolume 50, Issue 3 p. 316-316 Citations from the literature (including the russian literature) fertility and sterility High fertilization rate with intracytoplasmic sperm injection in mosaic Klinefelter's syndrome Harari O.; Bourne H.; Baker G.; Gronow M.; Johnston I. AUS Fertil Steril 1995 63/1 (182–184) First published: September 1995 https://doi.org/10.1016/0020-7292(95)92787-2AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article. Volume50, Issue3September 1995Pages 316-316 RelatedInformation

High fertilization rate with intracytoplasmic sperm injection in mosaic Klinefelter's syndrome

With the introduction of intracytoplasmic sperm injection (ICSI) as a practical successful treatment for male infertility, we are able to offer the procedure to a group of patients who probably could never father a child of their own. From a patient with mosaic Klinefelter's syndrome, sufficient motile sperm for intracytoplasmic sperm injection were obtained from a fresh ejaculate estimated to contain < 100 motile sperm. In the first IVF-ICSI attempt, out of seven oocytes that were collected from the wife, four were mature and were injected by ICSI. Fertilization occurred in all four oocytes but only one cleaved and was transferred to the uterus. Pregnancy test was negative 16 days after ET. In the second treatment cycle four out of eight oocytes were selected for ICSI. All four fertilized, three cleaved at the right time, and two were transferred into the wife's uterus. One embryo was frozen. Pregnancy test 16 days after ET was negative. The high fertilization rate achieved in this case indicates the potential of ICSI to treat extreme male infertility. Its use offers hope to those patients with conditions previously considered to be untreatable.

Susceptibility of trisomic and of triploid human fibroblasts to simian virus 40 (SV40).

CELLS from patients with G-trisomy or E-trisomy and XXY cells from patients with XY/XXY mosaic Klinefelter's syndrome are more susceptible to transformation in vitro by SV40 than are cells from normal individuals1–3. We have used triploid (69XXY) human cells to determine whether the presence of extra chromosomes per se increases susceptibility to transformation.