Cases reported "Diseases in Twins"

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1/7. Immunologic chimerism as evidence of bone marrow graft acceptance in an identical twin with acute lymphocytic leukemia.

    bone marrow from a well child was infused into her identical twin who had acute lymphocytic leukemia. In an attempt to provide an immunologic tag for use in twin transplantation, the donor twin was immunized to Keyhole limpet hemocyanin (KLH) and yellow fever virus prior to the marrow infusion. Subsequent immunological chimerism in the recipient twin gave evidence for graft acceptance.
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2/7. prenatal diagnosis of female monozygotic twins discordant for turner syndrome: implications for prenatal genetic counselling.

    We describe a set of monozygotic (MZ) female twins, one of whom presented with a typical turner syndrome (TS) phenotype and the other a normal female phenotype. Prenatal fetal ultrasonographic examination showed a monochorial diamniotic pregnancy with a hygroma colli and growth delay in Twin A and no anomalies in Twin B. Karyotypic analysis performed on fetal blood samples demonstrated a 46,XX/45,X (23/2) mosaicism in Twin A and a normal 46,XX chromosome constitution in Twin B. At birth, Twin A presented with a typical TS and Twin B had a normal female phenotype. Postnatal cytogenetic investigation of blood lymphocytes showed the same 46,XX/45,X mosaicism in both twins: 46,XX/45,X (40/7) in Twin A and 46,XX/45,X (40/5) in Twin B. Further investigations at the age of 10 months showed in Twin A a 46,XX/45,X (98/2) mosaicism in lymphocytes and 100% of 45,X (50 analysed cells) in fibroblasts, and in Twin B a normal 46,XX (100 analysed cells) chromosome constitution in lymphocytes but a mild 46,XX/45,X (78/2) mosaicism in fibroblasts. Monozygosity was confirmed by molecular analysis. To our knowledge, this is the first report of prenatal diagnosis of MZ female twins discordant for TS. review of reported sets of MZ female twins (eight cases) or triplets (one case) discordant for TS shows, as in the present case, that the phenotype correlates better with the chromosomal distribution of mosaicism in fibroblasts than in lymphocytes. In the blood of MZ twins chimerism may modify the initial allocation of the mosaicism. These results suggest that, in cases of prenatal diagnosis of MZ female twins discordant for TS, the phenotype of each twin would be better predicted from karyotype analysis of cells from amniotic fluid than from fetal blood.
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3/7. Evidence for blood chimerism in dizygotic spontaneous twin pregnancy discordant for down syndrome.

    BACKGROUND: A monochorionic-diamniotic placenta (MCDAP) is rare in dizygotic (DZ) twinning. All reported cases have been documented in pregnancies achieved by the induction of ovulation alone or during the IVF cycle. methods AND RESULTS: We report a spontaneous pregnancy in a 39-year-old patient with evidence of MCDAP in DZ twins, discordant for trisomy 21. The first and second-trimester sonographic scans indicated male twins with MCDAP. amniocentesis, performed because of advanced maternal age, revealed a normal karyotype in one fetus, and trisomy 21 in the other. Molecular studies, performed in order to confirm the zygosity and chorionicity, demonstrated that the fetuses were DZ. In order to identity the affected twin, a detailed sonographic examination was repeated, but no abnormal findings associated with down syndrome were demonstrated in any of the fetuses. Therefore, umbilical cord blood samples were obtained from both fetuses. Chromosomal analysis revealed in both fetuses two cell lines: a normal cell line of 46,XY and a 47,XY, 21 cell line, in 65 and 80% of the cells, respectively. This result was independently confirmed by both FISH and G-banding. dna extracted from both cord blood samples demonstrated an admixture of two distinct genotypes in each sample. CONCLUSIONS: We propose that this case represents a monochorionic-dizygotic twin pregnancy with blood chimerism. The most plausible mechanism underlying this phenomenon is placental fusion early in pregnancy, resulting in an architecturally single placenta originating from two distinct zygotes. The newly formed blood vessels created anastomoses between the DZ twins and allowed reciprocal blood chimerism between the normal and the trisomic twin.
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4/7. prenatal diagnosis and genetic analysis of a fetus with 47,XX, 21/46,XX mosaicism and XX/XY chimerism.

    prenatal diagnosis of simultaneous occurrence of chimerism and autosomal mosaicism is extremely rare. We report the prenatal diagnosis and genetic analysis of a fetus in a twin pregnancy with mosaic 47,XX, 21/46,XX with chimeric XX/XY. A 36-year-old, para 1, woman was referred for genetic counseling at 20 weeks' gestation because of abnormal karyotype (47,XX, 21/46,XX) in one fetus in a twin pregnancy. cordocentesis revealed 47,XX, 21[3]/46,XX[35]/46,XY[7] in this fetus. Postnatal cytogenetic analysis of cord blood confirmed three cell lines in this twin (A) and 46,XY in the co-twin (B). Postmortem pathologic findings of both fetuses were normal. fluorescence in situ hybridization identified three cell lines in the cord blood of twin A. Molecular genetic analysis using polymorphic dna markers revealed parental origin of fetal tissue, and confirmed the chimeric status. Molecular genetic analysis with polymorphic dna markers help to differentiate chimerism from mosaicism and define the origin of cell lines, which may have importance in genetic counseling.
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5/7. Persistent gestational trophoblastic disease after an androgenetic/biparental fetal chimera: a case report and review.

    We present a case of a dichorionic/diamniotic twin pregnancy in which one twin presented with ultrasound findings suggestive of molar changes in the placenta. The placenta of twin A seemed to be grossly enlarged and cystic, and twin A was small for gestation. After an inevitable abortion, a detailed histological and genetic evaluation was performed on the fetus and placenta from twin A, including traditional cytogenetic techniques, microsatellite marker analysis, fluorescent in situ hybridization, and p57 immunostaining. It was determined that twin A was a chimera with a biparental XX cell line and an androgenetic XY cell line. The 2 cell lines were present in both the placenta and the fetus. The patient later developed and was treated for persistent gestational trophoblastic disease, which has been shown to have an increased risk after an androgenetic conception. Cases of mosaicism or chimerism involving an androgenetic cell line may be difficult to diagnose histologically but are critical to identify because of the increased risk for persistent gestational trophoblastic disease. Therefore, we emphasize the importance of using multiple molecular, cytogenetic, and immunohistochemical techniques when diagnosing cases involving such unusual placental abnormalities. To our knowledge, this is the first reported case of persistent gestational disease after a fetal chimera.
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6/7. A cytogenetic and endocrinologic study of a set of monozygotic isokaryotic 45,X/46,XY twins discordant for phenotypic sex: mosaicism versus chimerism.

    Newborn monozygotic twins with phenotypic sexual discordance were diagnosed with 45,X/46,XY gonadal dysgenesis. Cytogenetic studies of peripheral blood (serial), skin, and gonad were performed. Serial comparative gonadotropin data and luteinizing hormone-releasing hormone stimulation tests were obtained. A phenotypically normal male twin was found to have a significant number of 45,X cells only in lymphocytes and was considered endocrinologically intact. The sexually ambiguous twin sister demonstrated a significant number of 45,X cell lines in all tissues and was considered endocrinologically agonadal. These data demonstrate the role of the 45,X karyotype on abnormal gonadal formation and function and make possible different etiologies for the 45,X cell line in both twins. While mosaicism is likely for both, chimerism is possible for the normal male.
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7/7. Vascular anastomoses leading to amelia and cutis aplasia in a dizygotic twin pregnancy.

    Dichorionic placentation is observed in both monozygotic (MZ) and dizygotic (DZ) twinning, while monochorionic placentation is unique to MZ twinning. Examinations of monochorionic twin placentas frequently reveal the presence of vascular anastomoses between the two fetal circulations; such anastomoses rarely occur in dichorionic placentas. Consequently, abnormalities resulting from placental vascular communications are almost exclusively observed in MZ twin pairs with monochorionic placentas. We report opposite-sex DZ twins in which vascular anastomoses occurred within a fused dichorionic placenta and were associated with vascular disruptions in one twin. The liveborn male twin had amelia, cutis aplasia, and XX/XY blood chimerism; the female twin died in utero.
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