Cases reported "Diseases in Twins"

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11/34. Twin pregnancy with Roberts syndrome in one fetus and trisomy 18 in the other.

    We report a case of a 26-year-old multigravida pregnant woman with a history of 3 stillbirths with hydrops fetalis who presented with 17 weeks menstrual age. Sonographic examination revealed twin gestation. Twin 1 showed subcutaneous edema, pleural effusion, and mesomelic limb shortening, suggestive of lethal skeletal dysplasia (Roberts syndrome). Twin 2 corresponded to 17 weeks menstrual age with no major malformations. karyotyping of the fetuses showed normal karyotype in twin 1 and trisomy 18 in twin 2. Fetal autopsy confirmed the sonographic findings. The occurrence of trisomy 18 in the fetus may be due to chance, but it raises the possibility that the heterozygotes of Roberts syndrome may be at higher risk of nondisjunction and aneuploidy in the fetus. Furthermore, this case illustrates that karyotyping of both fetuses is warranted when 1 of the twins is found to have major malformations.
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keywords = trisomy
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12/34. 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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ranking = 0.33333333333333
keywords = trisomy
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13/34. Autism associated with marker chromosome.

    Six boys who all showed the combination of moderate-severe mental retardation, autistic behavior, and mild-moderate physical stigmatization are described. Muscular hypotonia, epilepsy, and kyphoscoliosis were associated features in several cases, as were extremes of short stature and low weight. A supernumerary chromosome was found in all six cases, and it appears that there may be a separate syndrome associated with partial trisomy of chromosome 15.
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ranking = 0.19531708282721
keywords = trisomy, partial trisomy
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14/34. Monozygotic twins discordant for partial trisomy 1.

    A 25-year-old primigravida delivered monozygotic twins discordant for multiple anomalies and partial trisomy 1 mosaicism. The phenotype of partial trisomy 1 includes craniofacial, central nervous system, and ocular anomalies. The most likely explanation for these findings is that the translocation occurred after twinning occurred. This observation emphasizes that monozygotic twins are not necessarily genetically identical. They are identical at conception, but subsequent mutation and rearrangement of the genome may cause substantial phenotypic differences.
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ranking = 1.1719024969632
keywords = trisomy, partial trisomy
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15/34. Monozygotic twins with trisomy 18: a report of discordant phenotype.

    The predicted incidence of liveborn monozygotic trisomy 18 twins is one per million births. The first case of liveborn monozygotic trisomy 18 twins was reported in 1989 and we report a second case in which striking phenotypic discordance existed. The probability of monozygotic trisomy 18 twinning and the mechanisms for phenotypic discordance in trisomic twins is discussed.
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ranking = 1.1666666666667
keywords = trisomy
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16/34. trisomy 22 with holoprosencephaly: a clinicopathologic study.

    trisomy 22 (47, XY, 22) was found at 17 weeks gestation in one fetus of a twin gestation. The karyotypes of both parents and of the other twin were normal. Abnormal prenatal findings included maternal pre-eclampsia, fetal growth retardation, and progressive intracranial sonolucency of the trisomic fetus. Delivery by cesarean section at 36 weeks gestation yielded a normal healthy female weighing 2,822 grams and a markedly macerated dysmorphic male weighing 642 grams. holoprosencephaly was found in the trisomic fetus, an unusual feature in trisomy 22. Additional findings in this case are compared to other findings in the literature.
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ranking = 0.16666666666667
keywords = trisomy
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17/34. Aortic root dilatation associated with partial trisomy 7(q31.2

   qter).     Aortic root dilatation and mitral valve prolapse are cardiac findings sometimes seen in disorders of connective tissue, most often in the marfan syndrome. This report describes an infant with these cardiac anomalies and a specific chromosomal abnormality, partial trisomy of chromosome 7 associated with partial monosomy of chromosome 22. This association may have significance with respect to the etiology of cardiac disease in connective tissue disorders such as marfan syndrome.
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ranking = 0.97658541413604
keywords = trisomy, partial trisomy
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18/34. trisomy 18 in monozygotic twins.

    We report a very rare case of a pair of monozygotic twins with trisomy 18 discordant for major anomalies. Our case contributes to published data on the role of nongenetic factors in the etiology of discordance of congenital malformations in genotypically identical twins. We stress the importance of accurate ultrasonic examination in reducing the number of caesarean sections to deliver trisomy 18 infants.
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ranking = 0.33333333333333
keywords = trisomy
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19/34. Infantile glaucoma in Down's syndrome (trisomy 21).

    We examined five patients with Down's syndrome and bilateral infantile glaucoma. In the first few months of life four patients had large cloudy corneas, breaks in Descemet's membrane, increased intraocular pressure, photophobia, and tearing. In one patient the diagnosis was delayed until 3 1/2 years of age because of concomitant nasolacrimal duct obstruction. Two patients developed cataracts and retinal detachment and have undergone multiple surgical procedures. The clinical course in these two older patients suggests that coexistence of congenital glaucoma, severe myopia, and cataracts in patients with trisomy 21 strongly predisposes for the development of retinal detachment and poor visual outcome.
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ranking = 0.83333333333333
keywords = trisomy
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20/34. trisomy 13 in monozygotic twins discordant for major congenital anomalies.

    The occurrence of trisomy 13 in twins is very rare. We report a pair of genotypically identical twins with trisomy 13 discordant for major anomalies. This case contributes to the already published data on the contribution of non-genetic factors to the aetiology of congenital malformations in monozygotic twins.
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ranking = 0.33333333333333
keywords = trisomy
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