Cases reported "Diseases in Twins"

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21/34. Neuronal intestinal dysplasia--clinical and histochemical findings and its association with Hirschsprung's disease.

    Neuronal intestinal dysplasia (NID) is a disturbance of the innervation of the gut. Its symptoms resemble the ones seen in Hirschsprung's disease. Contrary to aganglionosis, however, there is hyperplasia of the ganglia. Our study revealed isolated NID (4/49 cases) to be eight times rarer than aganglionosis (33/49 patients). Combination of both diseases has been reported to occur in 20% of NID cases; we did however find it in 75% (12/16) of our patients. NID was located proximal to the aganglionic segment and reached the stomach in 1 case. Combination of both diseases resulted in superposition of symptoms, thus rendering impossible to differentiate between NID group A (with hypoplasia of sympathetic innervation and acute early onset) and group B (with normal sympathetic innervation and chronic, late onset) on clinical grounds only. Major malformations were present in 5/16 patients with NID; 2 of them had trisomy 21.
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22/34. trisomy 8 mosaicism syndrome. Report of monozygotic twins.

    Monozygotic twins were born with the phenotypical appearance of the trisomy 8 syndrome. The first twin, a stillborn, had autopsy findings suggestive of trisomy 8 syndrome. Cultured lymphocytes and skin fibroblasts of the second, liveborn twin, showed trisomy 8. While the lymphocyte culture showed 46/47, 8 mosaicism, with normal cells predominating, skin fibroblasts yielded only cells with trisomy 8. bone marrow preparation showed only normal cells, 46,XY. Repeat lymphocyte culture at age 14 months, showed a reduced number of trisomy 8 cells. We would like to emphasize the importance of cytogenetic studies in early infancy, using both peripheral lymphocyte and skin fibroblast cultures, to increase the chance of detecting chromosomal abnormalities.
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23/34. Down's syndrome in twins of unlike sex.

    The occurrence of Down's syndrome in both dizygotic twins appears to be very rare. A case of twins of unlike sex is reported, in which chromosomal analysis showed trisomy 21 in both of them, while the parental karyotypes were normal. This is the third reported case of such a constellation, and the second one in which infant and parental chromosomal analysis was done.
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24/34. Monozygotic twins discordant for trisomy 21.

    Monochorionic twins were phenotypically discordant for down syndrome. Chromosome analysis of lymphocytes showed both to be mosaics. Fibroblast chromosome analysis showed that one twin was 46,XY and the other 47,XY, 21. blood mosaicism appears to have resulted from placental anastomoses. The twins are presumed to be monozygotic on the basis of placentation, identical blood groups, HLA haplotypes, and serum proteins. We offer some speculation on the manner of occurrence of this rare event.
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ranking = 4
keywords = trisomy
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25/34. Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates.

    This is the case report of a patient with Wolf's syndrome having a monosomy 4pter   p15.3 and an additional trisomy 8pter   p22, derived from a maternal balanced translocation t(4;8)(p15.3;p22) after 2:2 disjunction and adjacent-1 segregation. The patient's phenotype is presumably slightly modified by the trisomic 8p segment. literature analyses indicate that phenotypic "hybrids" with traits of monosomy 4p and of other autosomal segment trisomies exist. The dermatoglyphics of the patient were not highly characteristic for Wolf's syndrome. Also the dermatoglyphics of the balanced translocation carriers were unspecific and did not reflect the carrier status. pedigree analyses of 46 reported families with reciprocal translocations involving the short arm of chromosome 4 show a high risk (20.5% /- 4.6%) for unbalanced offspring (trisomy or monosomy 4p) after 2:2 disjunction and adjacent-1 segregation, if the breakpoint in the recipient chromosome is terminal and the resulting imbalance concerns the 4p segment only. It is considerably lower (4.5% /- 2.5%) if the breakpoint in the recipient chromosome is subterminal, as in the reported case, and the resulting imbalance concerns other chromosome segments additionally to the 4p segment. In both instances, the risk decreases with increasing segment length. The risk for unidentified abortions, stillbirths or neonatal deaths is also high in these families (about 40%). The frequency of progeny with balanced compared to progeny with normal karyotype corresponds to the expected 50% for alternate segregation.
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26/34. Discordance between prenatal cytogenetic diagnosis and outcome of pregnancy.

    From 1.3.73 to 30.9.80 5580 women had an amniocentesis performed here or elsewhere; fetal chromosome analyses were carried out in this laboratory. We found 112 abnormal karyotypes (2 per cent) out of 5591 chromosome analyses. In 40 women (0.7 per cent) no cytogenetic diagnosis was obtained. Follow-up was successful in 99.5 per cent. Nine cases are reported in detail: Three cases had discrepancy between the karyotype in amniotic fluid and peripheral blood after delivery, two of these cases turned out to be 46,XX (male) while the third was prenatally determined as trisomy 21, but had a 46,XX karyotype at birth. Six cases had discrepancy between the karyotype in amniotic fluid and the phenotypic outcome at birth/abortion. One case was a prenatally undetected 45,X/46,XY mosaicism; one case was an unexplained 45,X male fetus; two cases were prenatally determined as trisomy 21, but at abortion a normal karyotype was determined and in two cases maternal cells were probably examined. The incidence of cytogenetic errors in this study was very low.
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27/34. Autosomal mosaicism in amniotic fluid cells from a twin pregnancy.

    amniocentesis was performed on a 39-year-old gravida 4 woman because of maternal age. ultrasonography demonstrated a twin pregnancy, and two amniotic fluid specimens were obtained under direct ultrasound guidance. All cells analyzed from the first specimen were 46,XX. In the second specimen, one colony in each of two flasks had trisomy 9; the remaining 3 colonies analyzed were 46,XX. The total cell count in the second specimen was 14 (24%) of 58 cells which were trisomic for chromosome 9. The parents elected to continue the pregnancy, which resulted in two live-born infants, a male and a female, both chromosomally normal. The most likely explanation for the amniotic fluid finding is that fluid from one sac was sampled twice and that trisomic cells from the amnion were obtained during the second tap.
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28/34. cleft palate: confirmation of prenatal diagnosis by colour Doppler ultrasound.

    We present a case of a twin with trisomy 47,XX i(9p) in whom the diagnosis of cleft palate was confirmed by colour Doppler imaging demonstrating abnormal fluid flow across the fetal pharyngeal bone defect. Application of this technique in cases predisposed for this congenital lesion may prove beneficial in the diagnosis of the more subtle types of isolated cleft palate.
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29/34. prenatal diagnosis of trisomy 21 in monozygotic twins with increased nuchal translucency and abnormal serum biochemistry.

    We present a case of a monozygotic twin pregnancy who underwent routine screening for chromosomal abnormalities at 14 weeks of gestation by ultrasonographic measurement of nuchal translucency and biochemical analysis of maternal serum alpha fetoprotein and free beta human chorionic gonadotrophin levels. Both screening methods indicated the pregnancy to be at increased risk of down syndrome, with the ultrasound findings suggesting both fetuses to be affected. An amniocentesis was performed, and karyotype analysis revealed trisomy 21 in both fetuses; the mother subsequently opted for a termination of pregnancy. This case illustrates that screening for trisomy 21 in twin pregnancies is possible by both nuchal translucency measurement and maternal serum markers.
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ranking = 6
keywords = trisomy
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30/34. Intracytoplasmic sperm injection pregnancy with fetal trisomy 9p resulting from a balanced paternal translocation.

    Infertile men who carry a chromosomal translocation can be successfully treated with intracytoplasmic sperm injection (ICSI). However, such treatment carries a risk that a pregnancy with an abnormal karyotype will be induced. While in all previously published cases the outcome was favourable, we here report the first instance of a parental reciprocal translocation leading to a chromosomally unbalanced ICSI pregnancy. The fetus, one of a pair of dizygotic twins, was found to have trisomy for the short arm of chromosome 9. The parents opted for selective abortion of the affected twin.
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ranking = 5
keywords = trisomy
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