XYY Male Research Articles

Conditioning with targeted busulfan for autologous peripheral blood stem cells transplantation for acute myelogenous leukemia in an XYY male

We report herein a 19-year-old Japanese male with XYY syndrome who developed acute myelogenous leukemia. During three courses of cytotoxic chemotherapy, he suffered repeated hepatic and renal insufficiencies, possibly related to latent dysfunction from the XYY syndrome. The patient was treated with granulocyte colony-stimulating factor combined with etoposide, cytarabine, and busulfan (the latter adjusted to a targeting dose) followed by autologous peripheral blood stem cell transplantation. He had no severe regimen-related toxicities and is now free of leukemia.

Multicolor fluorescence in situ hybridization analysis of meiotic chromosome segregation in a 47,XYY male and a review of the literature

The frequencies of aneuploid and diploid sperm were determined in a 47,XYY male using multi-color fluorescence in situ hybridization (FISH) analysis, and compared with those from 10 control donors. A total of 30,078 sperm from the patient was scored, 15,044 by two-color FISH for chromosomes 13 and 21, and 15,034 by three-color FISH for the sex chromosomes using chromosome 1 as an internal autosomal control for diploidy and lack of hybridization. The frequencies of X-bearing (49.73%) and Y-bearing sperm (49.46%) in control males were not significantly different from the expected 50% (chi(2)-test for goodness of fit). The ratio of 24,X (50.60%) to 24, Y sperm (48.35%) in the patient, however, was significantly different from the controls (P = 0.0144, chi(2)-test for independence) and from the expected 1:1 ratio (P = 0.0055, chi(2)-test for goodness of fit). There was no significant increase in the frequency of diploid sperm when compared with the controls (chi(2)-test for independence). Significantly increased frequencies were found for 24,YY (0.07% vs. 0.02%, P = 0.0009) and 24,XY (0.44% vs. 0.29%, P = 0.0025), but not for 24,XX (0.05% vs. 0.05%, P > 0. 05), 24,+13 (0.07% vs. 0.07%, P > 0.05) or 24,+21 sperm (0.21% vs. 0. 18%, P > 0.05) in the 47,XYY male when compared with control donors (chi(2)-test for independence). Our results support the theory that loss of the extra Y chromosome occurs during spermatogenesis in most cells. In this XYY patient there was a significant increase in the frequency of sperm with sex chromosomal abnormalities but no suggestion of an inter-chromosomal effect on autosomes. All 3-color FISH studies in the literature demonstrate a significantly increased risk of gonosomal aneuploidy in XYY males, with the risk being on the order of 1%.

O-243. Aneuploidy analysis in spermatozoa from a 47,XYY male

O-243. Aneuploidy analysis in spermatozoa from a 47,XYY male

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.

T-cell Acute Lymphocytic Leukemia in an XYY Male, with Familial Occurrence of Leukemia

T-cell Acute Lymphocytic Leukemia in an XYY Male, with Familial Occurrence of Leukemia

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.

Chronic myelogenous leukemia with a complex Ph 1 translocation in an XYY male

We encountered a 38-year-old Japanese male patient with chronic myelogenous leukemia (CML), whose bone marrow and peripheral blood cells during the chronic and blastic phases contained a complex Ph 1 translocation and an extra Y chromosome [i.e., 47,XYY,t(9;22;13)(q34;q11;q14)]. A karyotypic analysis of PHA-stimulated lymphocytes showed the constitutional karyotype to be 47,XYY. Thus, it was considered that CML with a complex Ph 1 translocation developed in an XYY male; such a case has not been reported, so far. A B-lymphocyte cell line with the complex Ph 1 translocation was established by the procedure of Epstein-Barr virus transformation. The presence of the complex Ph 1 translocation in the B-lymphocyte cell line suggests that some of the B lymphocytes in this patient originated from the CML clone.

Chronic myelogenous leukemia in an XYY male

Neoplasia has rarely been reported in the XYY syndrome. We report a patient with chronic myelogenous leukemia (CML), which comprises the third instance of malignancy reported in this disorder.

Incidence of 47,XYY males: implications of the production of 47,XYY offspring by 47,XYY males.

Abstract Chromosomally normal 46,XY males can have 47,XYY male offspring as a result of fertilization of a normal ovum by a YY spermatozoon, produced by nondisjunction in the second meiotic division or by mitotic nondisjunction of the Y chromosome in early stages of embryonic development of a 46,XY fetus. If such meiotic and mitotic nondisjunctions were random events and if these were the only source of 47,XYY males in the population, the incidence of 47,XYY males would remain constant. Two cases have been reported, however, in which 47,XYY males produced 47,XYY male offspring. If there are 47,XYY males who are a source of 47,XYY males in the population, there is the possibility that the incidence of 47,XYY males is changing. A discrete‐generation model is presented which describes (1) the change in incidence of 47,XYY males from one generation to the next; (2) the incidence at equilibrium; and (3) the incidence as a function of the probability that a 47.XYY male has a 47,XYY offspring, and as a function ...

Behind the Mask of Objective Science

The SciencesVolume 16, Issue 6 p. 16-31 Behind the Mask of Objective Science Jon Beckwith, Jon Beckwith Jon Beckwith is a professor of microbiology and molecular genetics, and Larry Miller a third-year medical student, both at Harvard Medical School. They are also members of the Genetics and Social Policy Group of Science for the People. The inspiration for this article and others they have coauthored on “The XYY Male: The Making of a Myth” in Harvard Magazine, October 1976, and on “Pitfalls of Genetic Screening Programs” in The Science Teacher, May 1976, comes, in part, from discussions within that group. Jon Beckwith's research is in genetic regulation and protein transport in bacteria.Search for more papers by this authorLarry Miller, Larry Miller Jon Beckwith is a professor of microbiology and molecular genetics, and Larry Miller a third-year medical student, both at Harvard Medical School. They are also members of the Genetics and Social Policy Group of Science for the People. The inspiration for this article and others they have coauthored on “The XYY Male: The Making of a Myth” in Harvard Magazine, October 1976, and on “Pitfalls of Genetic Screening Programs” in The Science Teacher, May 1976, comes, in part, from discussions within that group. Jon Beckwith's research is in genetic regulation and protein transport in bacteria.Search for more papers by this author Jon Beckwith, Jon Beckwith Jon Beckwith is a professor of microbiology and molecular genetics, and Larry Miller a third-year medical student, both at Harvard Medical School. They are also members of the Genetics and Social Policy Group of Science for the People. The inspiration for this article and others they have coauthored on “The XYY Male: The Making of a Myth” in Harvard Magazine, October 1976, and on “Pitfalls of Genetic Screening Programs” in The Science Teacher, May 1976, comes, in part, from discussions within that group. Jon Beckwith's research is in genetic regulation and protein transport in bacteria.Search for more papers by this authorLarry Miller, Larry Miller Jon Beckwith is a professor of microbiology and molecular genetics, and Larry Miller a third-year medical student, both at Harvard Medical School. They are also members of the Genetics and Social Policy Group of Science for the People. The inspiration for this article and others they have coauthored on “The XYY Male: The Making of a Myth” in Harvard Magazine, October 1976, and on “Pitfalls of Genetic Screening Programs” in The Science Teacher, May 1976, comes, in part, from discussions within that group. Jon Beckwith's research is in genetic regulation and protein transport in bacteria.Search for more papers by this author First published: November‐December 1976 https://doi.org/10.1002/j.2326-1951.1976.tb01484.xCitations: 1 AboutPDF 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 onFacebookTwitterLinkedInRedditWechat Citing Literature Volume16, Issue6November‐December 1976Pages 16-31 RelatedInformation

Circulating plasma testosterone in the XYY male

A population of 6 XYY and 6 XY individuals participated in a study to compare the levels of free circulating testosterone. No significant differences were found in the amounts of free circulating testosterone or total plasma testosterone. The plasma testosterone levels of the twelve subjects were within the normal range of values (596ng/dl ± 232ng/dl) obtained in our laboratory. Estrogen levels were assayed to determine estrogen influence on testosterone levels. Estrogens were not significantly different in the two groups. Plasma estrogens were within the limits of a random normal population (15–55pg/nl).

Presumptive fluorescent evidence for spermatocyte with X+Y+Y diakinetic univalents in an XYY male.

Clinical GeneticsVolume 4, Issue 5 p. 415-416 Presumptive fluorescent evidence for spermatocyte with X+Y+Y diakinetic univalents in an XYY male J. M. Luciani, Corresponding Author J. M. Luciani *Department of Histology and Embryology, School of Medicine, University of Marseille, Marseille, France1 Department of Histology und Embryology School of Medicine University of Marseille 27 Rd. J. Mouliii 13385 Marseille Cedex 4 FrunceSearch for more papers by this authorAnne-Marie Vagner-Capodano, Anne-Marie Vagner-Capodano *Department of Histology and Embryology, School of Medicine, University of Marseille, Marseille, FranceSearch for more papers by this authorMonique Devictor-Vuillet, Monique Devictor-Vuillet *Department of Histology and Embryology, School of Medicine, University of Marseille, Marseille, FranceSearch for more papers by this authorL. AUBERT, L. AUBERT **Department of Medicine, Hôspital de Font-Pré, Toulon, FranceSearch for more papers by this authorA. STAHL, A. STAHL *Department of Histology and Embryology, School of Medicine, University of Marseille, Marseille, FranceSearch for more papers by this author J. M. Luciani, Corresponding Author J. M. Luciani *Department of Histology and Embryology, School of Medicine, University of Marseille, Marseille, France1 Department of Histology und Embryology School of Medicine University of Marseille 27 Rd. J. Mouliii 13385 Marseille Cedex 4 FrunceSearch for more papers by this authorAnne-Marie Vagner-Capodano, Anne-Marie Vagner-Capodano *Department of Histology and Embryology, School of Medicine, University of Marseille, Marseille, FranceSearch for more papers by this authorMonique Devictor-Vuillet, Monique Devictor-Vuillet *Department of Histology and Embryology, School of Medicine, University of Marseille, Marseille, FranceSearch for more papers by this authorL. AUBERT, L. AUBERT **Department of Medicine, Hôspital de Font-Pré, Toulon, FranceSearch for more papers by this authorA. STAHL, A. STAHL *Department of Histology and Embryology, School of Medicine, University of Marseille, Marseille, FranceSearch for more papers by this author First published: September 1973 https://doi.org/10.1111/j.1399-0004.1973.tb01169.xCitations: 9AboutPDF 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.Citing Literature Volume4, Issue5September 1973Pages 415-416 RelatedInformation

Dermatoglyphic studies of the 47,XYY male.

The dermatoglyphics of 61 47, XYY patients and 166 46, XY controls were compared. The data on 50 47, XYY and 50 46, XY individuals were used to formulate an index score for any unknown having a 47, XYY karyotype. One hundred and sixteen 46, XY individuals were tested on this index and only 65 were correctly diagnosed as 46, XY males. Two 47, XYY individuals were tested and were correctly diagnosed. This result indicates that discrimination of 47, XYY from 46, XY individuals is not possible using the dermal patterns examined here. The data of this survey confirm the variability of dermal findings in 47.XYY individuals reported by others. The data do not agree, however, with reports of significant differences between 47.XYY and 46, XY individuals in the total finger ridge count, the palmar a‐b ridge width and count, and the distal sole hypothenar area. These results indicate that the extra Y chromosome does not significantly affect the dermal patterns of 47, XYY patients.

Fluorescent evidence for spermatocytes with two Y chromosomes in an XYY male.

SUMMARYA quinacrine fluorescent technique has been used to identify the presence and frequency of Y chromosomes at different stages of spermatogenesis in &n XYY male. Forty‐five per cent of primary spermatocytes contained two Y chromosomes associated as a YY bivalent, and the patient exhibited an increased frequency of YY bearing spermatozoa as compared to three control males.

The XYY Male

<h3>Introduction</h3> In clinical practice colonic manometry is recommended to exclude colonic inertia (no response to meal and to drug stimulation, i.e. bisacodyl) in patients with slow transit laxative-refractory constipation (Bharucha 2013). As to date, this has not been assessed by colonic HRM in adults, our <i>aim</i>was to evaluate the sensations and colonic motor response to a meal and to bisacodyl in patients with slow-transit laxative-refractory constipation. <h3>Methods</h3> Consecutive patients with slow-transit and laxative-refractory Rome III constipation were enrolled. During colonoscopy, an HRM catheter (40 sensors, 2.5 cm spaced) and an infusion tube were advanced as far as possible (caecum) and clipped to the mucosa. Colonic pressures were recorded for three hours before and two after a standardised meal, and for one hour after intra-colonic bisacodyl (10 mg). Abdominal discomfort, abdominal gas, desire to evacuate gas, desire to defecate and urgency to defecate were evaluated by means of 100 mm visual analogue scale (VAS) every 15 minutes. Number of pan-colonic pressurizations (PCPs, Corsetti 2015) and of low-amplitude (LAPSs, Dinning 2014) and high-amplitude propagating sequences (HAPSs, De Schryver 2002) were evaluated. A normal response to bisacodyl was identified by the occurrence of at least one HAPS. Data (mean±SD) were compared with those obtained in 10 healthy subjects (HS) (30±11 years, 5 females). <h3>Results</h3> A total of 24 refractory slow-transit constipation patients (43±13 years, 22 females) were studied; 15 of these also referred pain or discomfort. As compared to HS, the total number of PCPs and of LAPSs was significantly lower in patients without pain (respectively, 19±21 vs 89±40 and 6±10 vs 52±39, all p &lt; 0.01), while it did not differ in patients with pain (respectively, 60±41 and 38±46). PCPs significantly increased after a meal in HS and in patients with (p &lt; 0.01) but not in those without pain (p = 0.20). Retrograde LAPSs increased significantly after the meal in HS (p = 0.01) but not in patients, regardless of the presence of pain (all p &gt; 0.25). The response to bisacodyl was normal in all patients with pain and in 2/8 (25%) of those without pain (p = 0.01). VAS scores for discomfort differed significantly between patients with pain as compared to both patients without pain and healthy subjects (P = 0.006). <h3>Conclusion</h3> Compared to slow transit patients without pain, patients with pain have a partially preserved response to meal (increased PCPs but not LAPSs), a higher prevalence of a normal response to bisacodyl and report higher score for discomfort during manometry. <h3>Disclosure of Interest</h3> None Declared

Pattern of DNA replication of the sex chromosomes in three males, two with XYY and one with XXYY karotype.

INVESTIGATIONS of the pattern of DNA replication have shown that the X chromosomes in normal female cells exhibit marked asynchrony and one of them has a pronounced pattern of late replication. Other chromosomes differ also with respect to the time of DNA synthesis. In male cells it has been found that the Y chromosome replicates late compared with chromosomes of the 21–22 group1,2. This relatively late replication pattern of the Y chromosome has also been found in other mammals3–5. Investigations in patients with additional X chromosomes have shown that all X chromosomes in excess of one have pronounced late replicating patterns, similar to that of one of the X chromosomes in normal female cells6–10. As far as we know there have been only two previous references to the replication pattern of cells with two Y chromosomes. The presence of two heavily labelled presumptive Y chromosomes in an XYY male was quoted as a personal communication from Castilla, Breg and Miller, in the review by Miller11. Kikuchi and Sandberg12 studied replication patterns in two males with XYY karyotype.