1/26. Analysis of the sex chromosome constitution of sperm in men with a 47, XYY mosaic karyotype by fluorescence in situ hybridization.OBJECTIVE: To determine the incidence of sex chromosome aneuploidy in the sperm of two men with a 47,XYY/46,XY karyotype. DESIGN: Case report. SETTING: infertility clinic in a teaching hospital. PATIENT(S): One patient with near normal semen parameters whose wife had a history of miscarriages and one patient with primary infertility and severe oligoasthenozoospermia. INTERVENTION(S): cytogenetic analysis of peripheral lymphocytes and three-color X/Y/18 fluorescence in situ hybridization analysis of sperm. MAIN OUTCOME MEASURE(S): Analysis of sex chromosome disomy and diploidy rates in sperm. RESULT(S): Both patients had a 47,XYY/46,XY karyotype. The hyperdiploidy rate of patient 1 was 19% and that of patient 2 was 90%. The incidence of disomy XY was significantly elevated in both patients compared with the controls (0.23% and 1.02%, respectively, versus 0.10%). The incidence of disomy YY (0.44% versus 0.10%) was increased only in patient 2, as was the incidence of disomy 18 (0.49% versus 0.09%) and the rate of diploidy (0.83% versus 0.13%). The rate of 24,XX sperm in both patients was not different from that in the controls. CONCLUSION(S): patients with a 47,XYY mosaic karyotype may be at risk of producing offspring with a hyperdiploid sex constitution. These patients should have their sperm investigated by fluorescence in situ hybridization to determine their particular risks before they undergo intracytoplasmic sperm injection.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/26. Bilateral cryptorchidism associated with 47,xyy karyotype.We describe an 11-month-old boy with karyotype of 47,XYY who presented with bilateral cryptorchidism, and discuss the hormonal condition of the patient.- - - - - - - - - - ranking = 0.71428571428571keywords = karyotype (Clic here for more details about this article) |
3/26. tetrasomy Y by structural rearrangement: clinical report.Poly-Y karyotypes, except for 47,XYY, are rare events in humans. For instance, Y chromosome tetrasomy has been reported 10 times, 2 of which were by structural rearrangement. We present a 2-year-and-4-month-old boy who was referred for cytogenetic assessment because of global psychomotor delay. The GTG- and CBG-banded karyotypes on PHA-stimulated lymphocytes showed two cell populations, one of them contained two identical isodicentric Y chromosomes, which was seen in 93% of metaphases analyzed, and a 45,X cell line (7%). This was confirmed by FISH with probes DYZ3 (recognizing the centromeric region of the y chromosome), 91H4.5 (recognizing Yp11.2), and DYZ1 (recognizing Y heterochromatin in Yq12). The breakpoint has occurred near the telomeric end of the heterochromatic region. Therefore, the karyotype is mos 47,X,idic(Y)(q12)x2[123]/45,X[9]. This is the second time that such a karyotype has been reported. This chromosomal anomaly was formed most likely by a U-type exchange. Clinical features included speech delay, short stature, brachycephaly, large ears, bilateral epicanthal folds, hypertelorism, delayed teeth eruption, bilateral radio-ulnar synostosis, bilateral fifth finger clinodactyly, normal external genitalia, and impulsive behavior. The father had normal phenotype and karyotype. A review of the tetrasomy Y patients is presented. All patients with y chromosome tetrasomy exhibit some degree of mental retardation, various skeletal abnormalities, and facial dysmorphism. Nevertheless, the correlation between karyotype and phenotype is not yet well defined since few cases have been reported. This clinical report will be helpful in defining the phenotypic range associated with tetrasomy Y.- - - - - - - - - - ranking = 0.85714285714286keywords = karyotype (Clic here for more details about this article) |
4/26. Concurrence of fragile x syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype.We report on a 34-year-old developmentally disabled man referred to our clinic for evaluation of possible prader-willi syndrome on the basis of obesity and voracious appetite. Cytogenetic and molecular analysis revealed a 47, xyy karyotype and the presence of a trinucleotide repeat expansion resulting in fragile x syndrome. To our knowledge, this is the first report of concurrence of XYY and fragile x syndrome in the medical literature. review of sex chromosome abnormalities associated with fragile x syndrome and phenotypic considerations are presented.- - - - - - - - - - ranking = 0.14285714285714keywords = karyotype (Clic here for more details about this article) |
5/26. Disproportionate short stature, type E brachydactyly and exostoses of tibiae in a patient with an xyy karyotype. A 'new' syndrome?An 18-year-old male with an xyy karyotype is reported with short stature, normal intelligence and normal personality, in contrast to the XYY syndrome which can be characterized by tall stature, mental subnormality and aggressive behaviour. The patient, in addition, had exostoses of the tibiae bilaterally and type E brachydactyly; this association has not previously been described in patients with the xyy karyotype.- - - - - - - - - - ranking = 0.85714285714286keywords = karyotype (Clic here for more details about this article) |
6/26. A transsexual male with 47,xyy karyotype.Transsexuals are usually found to have a normal chromosome complement. The literature to date documents four transsexuals with 47,XYY pattern. This paper reports a fertile male with major cell line of 47,XYY and a gender identity disorder.- - - - - - - - - - ranking = 0.57142857142857keywords = karyotype (Clic here for more details about this article) |
7/26. Short stature, type E brachydactyly, exostoses, gynecomastia, and cryptorchidism in a patient with 47,XYY/45,X/46,XY mosaicism.We report a 72-year-old male patient with a 47,XYY/45,X/46,XY mosaicism associated with short stature, exostoses, type E brachydactyly, gynecomastia, cryptorchidism, mild mental retardation, and a paranoid personality and conversion disorder. Since his prevalent cell line was 47,XYY (about 75%), our patient could be karyotypically classified as a case of 47,XYY syndrome. In view of the striking similarity of the clinical features of this case and those of a XYY case previously reported by Ikegawa et al (1992), it seems reasonable to suggest that these patients are representatives of a novel syndrome with a xyy karyotype.- - - - - - - - - - ranking = 0.14285714285714keywords = karyotype (Clic here for more details about this article) |
8/26. Acute lymphoblastic leukemia in an XYY male.A case of acute lymphoblastic leukemia (ALL) in a 16-year-old male with a 47,XYY karyotype is reported. This chromosome aneuploidy was found in both bone marrow (BM) cells and mitogen-stimulated lymphocytes. Immunologic profile of leukemic cells showed a null phenotype. To our knowledge, this is the fifth case reported in the literature.- - - - - - - - - - ranking = 0.14285714285714keywords = karyotype (Clic here for more details about this article) |
9/26. oligohydramnios syndrome and xyy karyotype.A case of oligohydramnios syndrome was found to have an xyy karyotype and an inherited 9qh inversion. It is suggested that normal and extra Y chromosomes are a predisposing factor in the aetiology of severe congenital renal anomalies.- - - - - - - - - - ranking = 0.71428571428571keywords = karyotype (Clic here for more details about this article) |
10/26. Sperm chromosome complements in a 47,XYY man.Human sperm chromosomes from a 47,XYY male were examined using the direct method of sperm chromosome analysis with two modifications in the semen processing. A total of 75 sperm complements was karyotyped and all of these contained one sex chromosome. The percentages of X- and Y-bearing sperm were 53% and 47%, respectively. There were 10 sperm with autosomal chromosomal abnormalities. The frequencies of numerical (4.0%), structural (10.6%), and total (13.3%) abnormalities were not significantly different from the frequencies observed in normal donors in our laboratory. Our results do not support the suggestion that XYY males have an increased risk of aneuploid progeny as a result of secondary non-disjunction or interchromosomal effects. They do support the hypothesis that one y chromosome is eliminated in the germ cells of XYY males. However since our study provides the first information on sperm chromosomes in an XYY male, further studies on other XYY men are required.- - - - - - - - - - ranking = 0.14285714285714keywords = karyotype (Clic here for more details about this article) |
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