Cases reported "XYY Karyotype"

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11/43. Abnormal children of a 47,XYY father.

    Abnormal children of two 47,XYY men were studied. One of these men had 2 normal daughters and a child, 45,X/46,XY, with gonadal dysgenesis. The other man had 2 normal sons and a child with Down's syndrome. The extra chromosome 21 of this child came from the mother. Another 47,XYY man had 4 normal children.
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12/43. Stimulant medication in 47,XYY syndrome: a report of two cases.

    In two males, 11 and 12 years of age, referred for attention-deficit-hyperactivity disorder (ADHD), 47,XYY syndrome was diagnosed. A team that included a neuropsychologist, a physiotherapist, and a physician examined them. Stature (patients were above 97.5% height for age), muscle consistency, and tremor indicated chromosome analysis. psychological tests results did not fully fit the ADHD diagnosis. On the basis of our clinical observation we felt that stimulant medication was indicated. Administration of methylphenidate led to improved motor and cognitive functions as well as social adaptation in both patients. We suggest that this treatment might well be considered in clinically similar patients with XYY sex chromosomes; we further suggest that learning problems in such individuals may be related to ADHD.
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13/43. From spermatocytes to spermatozoa in an infertile XYY male.

    Sex chromosome distribution and aneuploidy as well as germ cell degeneration were evaluated in meiotic and post-meiotic cells from an infertile XYY male. Sex chromosome distribution was assessed by multicolour fluorescence in situ hybridization on meiotic preparations. Post-meiotic cell aneuploidy was characterized by a method combining multicolour fluorescence in situ hybridization and immunocytochemistry using the proacrosin-specific monoclonal antibody (mAb 4D4). TUNEL assay was carried out on seminiferous tubules to evaluate germ cell degeneration. At the prophase stage of the first meiotic division, 63.64% of cells at the pachytene stage carried three sex chromosomes. The ratio of X-bearing to Y-bearing spermatids and spermatozoa differed significantly from 1 : 1 with an excess of Y-bearing spermatids and spermatozoa. The frequency of hyperhaploid XY spermatids was increased in the XYY male, as well as the incidence of YY, XY and disomic 18 ejaculated spermatozoa. A preferential elimination of germ cells by apoptosis occurred in spermatocytes I. The persistence of the extra y chromosome during meiosis of an XYY male is associated with a high rate of spermatocyte I degeneration and a low rate of aneuploid spermatozoa.
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14/43. XYY chromosome abnormality in sexual homicide perpetrators.

    In a retrospective investigation of the court reports about sexual homicide perpetrators chromosome analysis had been carried out in 13 of 166 (7.8%) men. Three men (1.8%) with XYY chromosome abnormality were found. This rate is much higher than that found in unselected samples of prisoners (0.7-0.9%) or in the general population (0.01%). The three men had shown prepubescent abnormalities, school problems, and had suffered from physical abuse. The chromosome analysis in all cases had been carried out in connection with the forensic psychiatric court report due to the sexual homicide. However, two men had earlier psychiatric referrals. All were diagnosed as sexual sadistic, showed a psychopathic syndrome or psychopathy according to the Psychopathy checklist-Revised [Hare RD, 1991, The Hare Psychopathy checklist-Revised, Toronto, ontario, canada: Multi-health Systems]. Two were multiple murderers. Especially forensic psychiatrists should be vigilant of the possibility of XYY chromosome abnormalities in sexual offenders.
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15/43. Persistence of two Y chromosomes through meiotic prophase and metaphase I in an XYY man.

    Studies of spermatogenesis in an XYY male, presenting at a subfertility clinic, confirm the tendency for the germ cells to lose the second y chromosome but for some XYY cells to reach metaphase I (MI). light microscope studies of MI revealed the presence of YY bivalents and EM studies of microspread, silver-stained pachytene stages showed 30% of the cells to have two Y chromosomes; 13 out of 16 of these showing a YY synaptonemal complex. Strikingly, the Y axes show only partial synapsis; in no case was synapsis of the long arm heterochromatic regions apparent.
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16/43. 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.
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17/43. 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.
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18/43. 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.
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19/43. The marfan syndrome with an XYY chromosome pattern.

    A 36-year-old man who was diagnosed to have the marfan syndrome with an XYY chromosome pattern is reported. He was tall with long limbs and arachnodactylia, and had severe aortic regurgitation (AR). The chromosome pattern studied in specimens of blood and bone marrow revealed an XYY chromosome pattern. The relationship between the marfan syndrome and an XYY chromosome pattern is discussed.
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ranking = 8
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20/43. Chromosome changes in mycosis fungoides in an XYY male.

    A 32-year-old white male was diagnosed as having mycosis fungoides in 1976; bone marrow biopsy and aspiration in August 1984 revealed infiltration with neoplastic cells. cytogenetic analysis of the cells from the bone marrow specimen showed that 48 of 50 metaphases contained an extra y chromosome (i.e., 47,XYY). The remaining two cells were hypotetraploid and hyperpentaploid, respectively, with a common marker derived from chromosome #2. The metaphases obtained by PHA stimulation of peripheral blood cells showed a 47,XYY pattern. An interleukin 2 (IL-2) dependent T-cell line was established from the patient's blood mononuclear cells; all metaphases of this line had an extra y chromosome. Thus, this case is one of a mycosis fungoides developing in an XYY male.
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