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Cases reported "Aneuploidy"

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11/19. 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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12/19. The meiotic segregation of human sperm chromosomes in two men with accessory marker chromosomes.

    Accessory marker chromosomes are occasionally discovered in normal individuals and they are presumed "clinically inert" since they do not appear to have any phenotypic effect. However, they do pose a theoretical risk at meiosis since they could disrupt the normal pairing and disjunction of homologous chromosomes. Sperm chromosome complements have been studied in two normal males, each of whom carry a small bisatellited accessory marker chromosome 47,XY, + mar (psps), to determine if these marker chromosomes are associated with an increased frequency of aneuploid gametes. Pronuclear chromosomes were visualized after in vitro fertilization of golden hamster eggs with human sperm. The frequency of sperm complements containing a marker chromosome was not significantly different from 50% as theoretically expected, in either male (17/43 and 13/31 with marker chromosomes). One male had 2/43 (4.7%) aneuploid sperm, which is very close to the average frequency of aneuploid sperm seen in control donors (5%). The other male had 6/31 complements with chromosomal abnormalities. One set of sperm chromosomes had structural abnormalities, and five (16.1%) had numerical abnormalities. This frequency of aneuploidy is significantly elevated over the frequency seen in control donors (P = .0002). It is particularly interesting that all the abnormalities involved small chromosomes, as would be expected if the marker chromosome participated in distributive pairing and thereby disrupted normal disjunction of chromosomes of similar size. These preliminary results suggest that accessory marker chromosomes may increase the risk of aneuploid gametes in some individuals.
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13/19. Triple mosaicism with two autosomally unbalanced cell lines in a phenotypically normal oligospermic man.

    The chromosomal analysis of a phenotypically normal, moderately oligospermic man is reported. He presented a triple mosaic complement with two autosomally unbalanced cell lines. The cytogenetic results are discussed, and the importance of such investigations in men attending infertility clinics emphasized.
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14/19. Induction of in vitro proliferation and maturation of human aneuploid myelogenous leukemic cells.

    Human leukemic cells were induced to proliferate and mature to macrophage-like cells in primary cultures supplemented with conditioned medium (CM) from phytohemagglutinin and alloantigen-stimulated normal T lymphocytes. Blast and promyelocyte-enriched preparations, isolated after depletion of adherent phagocytic cells and lymphoid cells from samples of myelogenous leukemia patients, were suspended in liquid cultures with 30% CM. cell cycle analysis was performed throughout the course of induced cellular maturation. Within 24 h of exposure to CM, cells with macrophage-like morphology were identified among the developing adherent cells. Approximately 15-30% of the cells in culture suspensions also developed macrophage-like morphology and esterase reactivity with alpha-napthyl acetate after incubation for 2 d. The number of these nonproliferating cells increased and became predominant in the later culture period. Flow cytometric measurement of dna content showed that these mature cells had the same aneuploid stemline as the undifferentiated leukemic cells, indicating that genetically abnormal leukemic cells can be induced to differentiate. Reduction in the total rna content of the macrophage-like cells was also determined by flow cytometry. Reduction in rna and development of adherent cells served as early markers of maturation, in addition to the later acquisition of complement receptors and phagocytic capacity. cell cycle analysis showed that CM stimulated the proliferation of immature cells. This initial proliferation may precede intertwined events of proliferation and concurrent maturation of immature cells. Later in the culture period, cellular proliferation decreased, leading to termination of the cultures.
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15/19. Tetraploidy in a liveborn infant with spina bifida and other anomalies.

    Although tetraploidy of human chromosomes (92,XXYY) has been described frequently in abortuses, only one example in a liveborn infant has previously been described. A second malformed infant with a complete tetraploid chromosome complement, who lived for 15 days, is reported. In addition to many of the malformations described in the first case, this infant also had a sacral myelomeningocele and skeletal anomalies. The probable origin of the tetraploidy was a failure of cytoplasmic cleavage at the first mitotic division of the fertilised ovum.
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16/19. 46,XY/47,XYY/48,XYYY karyotype in a 3-year-old boy ascertained because of radioulnar synostosis.

    Chromosome analysis was performed on a 3-year-old boy because of bilateral radioulnar synostosis and demonstrated a mosaic karyotype 46,XY/47,XYY/48,XYYY. He had minor facial anomalies and mild intellectual delay. He appears to be the youngest patient reported with this rare chromosome complement. His father, mother, and brother had normal chromosomes. fluorescence in situ hybridization (FISH) was performed on the propositus and his father with the y chromosome heterochromatic probe (pHY3.4) to add to the evaluation of mosaicism.
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17/19. Uniparental isodisomy 13 in a normal female due to transmission of a maternal t(13q13q).

    chromosomes from a normal 23-year-old, primigravid woman were examined at 10 weeks of gestation because of her mother's history: 8 miscarriages and two liveborn infants (the proposita and a brother who died at 3 days with multiple anomalies). Karyotypes of the proposita and her normal mother were 45,XX,t(13q13q). No evidence of mosaicism was encountered. When the proposita inherited the t(13q13q), she received two copies of 13q from her mother. Moreover, she and her mother shared the same homozygous pattern of alleles from 7 highly polymorphic microsatellite repeats localized along 13q. No evidence of paternal markers from 13 was detected, although biparental inheritance was demonstrated with dna markers from chromosomes 2 and 17. Cytogenetic and molecular findings indicated that the proposita's chromosomal complement included mUPD 13q. The proposita's normal phenotype suggested that no maternally imprinted genes map to 13q.
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18/19. dna aneuploidy in a case of rectosigmoid adenocarcinoma complicated by ulcerative colitis.

    A case of Borrmann type IV colorectal adenocarcinoma detected as a complication of long-standing ulcerative colitis is reported. barium enema and colonoscopy disclosed a stenotic area associated with a tumoral mass and a flat elevated lesion in the rectosigmoid region and a submucosal tumor-like lesion in the rectum. Total colectomy was performed and histological studies demonstrated a moderately differentiated adenocarcinoma accompanied by high- and low-grade dysplasia. dna ploidy pattern analysis showed aneuploidy in the adenocarcinoma and high-grade dysplasia, but diploidy in the normal and atrophic mucosa and in low-grade dysplasia. dna aneuploid content was associated with the presence of colorectal carcinoma complicating ulcerative colitis, indicating that dna content studies should be included in screening programs to detect early colorectal carcinoma following this disease, as a complementary study to histological assessment.
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19/19. Tetrasomy 21 in megakaryoblastic leukemia.

    A 23-month-old female evaluated for profound anemia proved to have megakaryoblastic leukemia. The diagnosis is based on examination of bone marrow morphology, cytochemical characteristics, and immunophenotype. The chromosome complement of unstimulated blast cells in peripheral blood and bone marrow was 48,XX,+21,+21. Tetrasomy 21 is the sole clonal cytogenetic abnormality in this patient with megakaryoblastic leukemia. The constitutional complement of the patient is normal female, 46,XX.
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Last update: April 2009
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