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1/7. Dispermic chimerism with two abnormal cell lines, 47,XY, 21 and 47,XX, 12.

    chimerism in humans appears to be a rare phenomenon that is usually discovered by accident. Here we describe a stillborn male fetus with multiple congenital anomalies which was found to have two cytogenetically abnormal cell lines, 47,XY, 21 and 47, XX, 12. The difference in sex chromosome constitution between the cell lines indicated that the fetus had dispermic chimerism. To our knowledge, this is the first report of chimerism with two abnormal cell lines.
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2/7. Erroneous genetic sex determination of a newborn twin girl due to chimerism caused by foetal blood transfusion. A case report.

    OBJECTIVE: We present a case of erroneous sex determination in a newborn twin girl (twin A) due to chimerism. CASE REPORT: amniocentesis and ultrasound examination had pointed towards male sex of both twins. At birth, twin A presented as a phenotypically normal female with 46,XY karyotype, and 46,XY gonadal dysgenesis was suspected. Twin B was a normal male. RESULTS: In our department, further examinations of twin A included undetectable testosterone and inhibin-B and elevated FSH. Ultrasound suspected an infantile uterus, and sequencing of the SRY gene was normal. After gonadectomy, a 46,XX karyotype was demonstrated in both normal infantile ovaries and in the fibroblasts from a skin biopsy. Analysis of X-linked markers in dna from blood lymphocytes in both twins was identical, consistent with 46,XY karyotypes. CONCLUSION: Twin A is a 46,XX female with a chimeric 46,XY blood cell line due to intrauterine transfusion from her twin brother.
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keywords = chimerism
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3/7. fetal blood sampling demonstrating chimerism in monozygotic twins discordant for sex and tissue karyotype (46,XY and 45,X)

    fetal blood sampling has been used in the genetic work-up of twin gestations for rapid karyotyping. We present a case of twins which on ultrasound evaluation revealed hydrops fetalis in one twin and a normal second twin. fetal blood sampling revealed the presence of mosaicism for 46,XY/45,X in both twins. HLA antigen testing showed the twins to be identical. The patient elected pregnancy termination. Blood chromosomal analysis after delivery revealed both twins to have 46,XY/45,X mosaicism, but the twin with signs of hydrops fetalis had tissue chromosomes of 45,X and the normal twin had tissue chromosomes of 46,XY. amniotic fluid chromosomal analysis revealed 46,XY in twin A and 45,X in twin B. This represents a case of identical (monozygotic) twins with sex discordance. In this case, there was the probable occurrence of post-zygotic chromosomal non-disjunction leading to the discordancy of the sex in this set of twins. With the presence of vascular communication in monozygotic twins, there is the possibility of exchange of blood in monozygotic twins and the result of blood chimerism in twins.
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keywords = chimerism
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4/7. XX/XY chimerism encountered during prenatal diagnosis.

    46,XX/46,XY chimerism has previously been reported in patients with abnormal sexual development, and rarely in otherwise normal individuals. We report the first postnatally documented prenatal diagnosis of whole-body 46,XX/46,XY chimerism in humans, discovered by maternal age amniocentesis. The normal male phenotype in this child creates a dilemma in prenatal counselling, since genotypic male/female chimerism cannot be assumed to imply an abnormal sexual phenotype.
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ranking = 1.1666666666667
keywords = chimerism
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5/7. chimerism 46,XX/46,XY in a phenotypic female.

    A female patient is reported with lymphocyte chromosome chimerism (46,XX/46,XY). Her whole-body chimerism was confirmed in the ABO blood group system by the presence of two different erythrocyte populations, A1O and OO. Normal findings were recorded at physical and gynecological examination, except for mammary hypoplasia and sterility of 7 years duration, the latter complaint being the cause for genetic examination of the patient.
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keywords = chimerism
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6/7. Origin of chi46,XX/46,XY chimerism in a human true hermaphrodite.

    Using chromosome heteromorphisms and blood cell types as genetic markers, we demonstrated chimerism in a chi46,XX/46,XY true hermaphrodite. The pattern of inheritance of the chromosome heteromorphisms indicates that this individual was probably conceived by the fertilization, by two different spermatozoa, of an ovum and the second meiotic division polar body derived from the ovum and subsequent fusion of the two zygotes. This conclusion is based on the identification of the same maternal chromosomes 13, 16, and 21 in both the 46,XX and 46,XY cells of the patient. In the two cell lines of the chimera, chromosomal markers showed different paternal No. 9 chromosomes and sex chromosomes, as well as the same paternal chromosome 22.
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ranking = 0.83333333333333
keywords = chimerism
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7/7. True hermaphroditism with XX/XY sex chromosome mosaicism: report of a case.

    A case of true hermaphroditism with 46, XX/46, XY karyotype is reported. The propositus, reared as a male, showed ambiguous external genitalia with perineoscrotal hypospadias, and internal genitalia represented by bilateral ovotestes, normal uterus and tubes. Periodic menstrual bleedings appeared at puberty. The endocrinologic data demonstrated the secretory activity of both the ovarian and the testicular tissue. The analysis of red cell, lymphocyte and serum markers, done on the propositus and on his parents, failed to show any evidence of double fertilization. On this basis, the origin of the XX/XY condition (mosaicism versus chimerism) and its developmental consequences are discussed.
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ranking = 0.16666666666667
keywords = chimerism
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