Cases reported "Diseases in Twins"

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1/34. 'Identical' twins with discordant karyotypes.

    A chromosomal abnormality in one of the fetuses of a monozygotic twin pregnancy is a rare phenomenon. In the prenatal unit of our cytogenetics laboratory we have recently come across two such heterokaryotypic twin pregnancies. In both cases ultrasound abnormalities were detected in one fetus of each twin pair. Chromosomal analysis showed that one twin pregnancy was discordant for trisomy 21 and the other for 45,X. Ultrasonographic examination suggested a monochorionic twin pregnancy in each case and dna studies confirmed that both sets of twins were monozygotic. Both pregnancies were terminated. Biopsies taken from different sites of the placentas showed chromosomal mosaicism in both cases. There was no clear correlation between the karyotype found close to the site of the umbilical cord insertion in the placenta and the karyotype of the fetus. Sampling of amniotic fluid from both sacs is recommended in diamniotic twin pregnancies if one (or both) of the fetuses has ultrasound abnormalities, even if the twins are apparently monochorionic.
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keywords = trisomy
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2/34. Acardiac twin pregnancy: associated with trisomy 2: case report.

    Acardiac anomaly is a rare complication of multiple pregnancies. Arterial-to-arterial vascular anastomoses between twins, in the presence of a fused placenta, develop in the first trimester. Consequently the pump twin provides the acardius with blood. The second case of acardiac twin pregnancy with cytogenetic analysis of the acardiac showing the karyotype 47,XX, 2 is presented. literature of acardiac twin pregnancies with different cytogenetic results and cases with trisomy 2 are reviewed, and a hypothesis of genesis is put forward.
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ranking = 5
keywords = trisomy
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3/34. trisomy 13 in one fetus from a twin gestation after intracytoplasmic sperm injection. A case report.

    BACKGROUND: Intracytoplasmic sperm injection (ICSI) is an assisted reproductive technique used in the treatment of severe male factor infertility. Reports of chromosomal aberrations in some fetuses conceived following ICSI have raised concern that the technique may contribute to the development of genetic disease. CASE: trisomy 13 occurred in one of twin fetuses of a 28-year-old woman who underwent ICSI. This case is unique because it is the first reported one of an autosomal trisomy complicating one fetus from a twin gestation conceived by ICSI. It is also the first case describing an autosomal trisomy following ICSI in a woman under the age of 35. CONCLUSION: Chromosomal abnormalities associated with ICSI may be accounted for by factors other than advanced maternal age. Chromosomal aberrations may be related to the procedure itself. Therefore, patients should be advised of the possibility of aneuploidy in association with ICSI, and genetic amniocentesis should be considered regardless of maternal age.
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ranking = 2
keywords = trisomy
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4/34. Selective termination of aneuploidy utilizing rapid fluorescence in situ hybridization detection techniques.

    Twin pregnancy following assisted reproductive technology with a euploid fetus and a coexisting aneuploid co-twin constitutes a conflicting situation; therefore, it is important for the genetic constitution of each co-twin to be diagnosed accurately and promptly for parental genetic counseling and subsequent aggressive management. A 35-year-old woman, gravida 1, with a 2-year history of infertility, presented bilateral fallopian tubal obstruction at her infertility workups, for which she received in vitro fertilization; subsequently she conceived a twin pregnancy. She underwent genetic amniocentesis at 16 weeks' gestation, as indicated by an advanced maternal age. Presented with the diagnosis of twin pregnancy with discordancy for trisomy 21, a rapid fluorescence in situ hybridization (FISH) technique for aneuploidy mapping was applied for subsequent abdominal selective fetal reduction. The FISH technique facilitates the rapid analysis of uncultured amniocytes. Normal (disomic) and trisomic samples can be distinguished clearly and rapidly for subsequent selective fetocide. The FISH technique is an important tool in prenatal diagnosis and clinical applications.
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5/34. Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation.

    Monozygotic twin brothers are described who share clinical features which include: moderate mental retardation, short stature, macrocephaly, frontal bossing, ptosis, low-set ears, brachydactyly, 5th fingers clinodactyly, single palmar creases, cryptorchidism, and prelingual sensorineural deafness. One of the twins presented with mild cardiac dilatation and died at age 3(1/2) from cardiac arrest during an episode of acute respiratory infection. While chromosome analyses performed for both twins on peripheral blood showed apparently normal karyotypes, screening for all telomeric regions on the surviving propositus revealed a combination of partial 6p trisomy and partial 11q monosomy. A balanced reciprocal translocation was found in the father. The phenotype of the twins is most likely related to this cryptic chromosomal rearrangement. The fact that the phenotype in this family partially overlaps with some previously reported phenotypes is discussed.
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keywords = trisomy
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6/34. A family with three sibs carrying trisomy 21.

    A family with three sibs, including a pair of dizygotic twins, all affected by Down's syndrome with regular trisomy 21, is described. The chromosome counts carried out on prolonged fibroblasts cultures of the mother, revealed the presence of the trisomy 21 in 6 out of 688 scored mitoses. The cytological findings give support to the hypothesis of a chromosome mosaicism in one of the normal parents, as a cause of the recurrence of the trisomy 21.
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ranking = 7
keywords = trisomy
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7/34. Prenatal detection of mosaic trisomy 1q due to an unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: a postzygotic error.

    Complete or mosaic trisomy for all of chromosome 1q has been seen rarely in a recognized pregnancy. A patient presented with twins following in vitro fertilization (IVF). Ultrasound showed twin A to have a diaphragmatic hernia, thick nuchal fold, and subtle intracranial abnormalities. Twin B appeared normal and a thick dividing membrane was seen. amniocentesis of twin A showed a male karyotype with mosaic trisomy 1q in 57% of cells resulting from a translocation between chromosomes Yq12 and 1q12. Parental karyotypes were normal. The twins were delivered at 33 weeks. Twin A died at 1 hr of life. autopsy confirmed the left diaphragmatic hernia and hypoplastic lungs. autopsy also revealed a partial cleft palate, syndactyly of the second and third toes bilaterally, external deviation of the left 5th toe, and contractures of the index fingers bilaterally. A recent report documented formation of a chimera resulting from embryo amalgamation after IVF. Given the rarity of the cytogenetic findings in our case, we sought to determine if the mosaicism was a result of chimera formation related to the IVF. Thirteen polymorphic loci throughout the genome, in addition to four on 1q and four on 1p, were amplified by PCR. Only two alleles were observed at each of these loci in twin A, one paternal and the other maternal. We present further clinical findings of this case with a rare cytogenetic abnormality that appears to have originated from a postzygotic mitotic error and not embryo amalgamation.
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ranking = 6
keywords = trisomy
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8/34. Double trisomy (48,XXY, 21) in monozygotic twins: case report and review of the literature.

    The occurrence of double aneuploidy in the same individual is a relatively rare phenomenon. We describe twin newborns with typical clinical features of Down's syndrome, of which one revealed 48,XXY, 21 GTG-band karyotype. The second newborn died 2 days after its birth, and was clinically diagnosed having down syndrome. Due to the same clinical features of the twins, the common placenta and amniotic sac, we speculate that they were monozygotics and as a result the second newborn should also be a Klinefelter. The purpose of this report is to present a rare case of possible coincidence of double aneuploidy in newborn twins. A review of the literature showed that double trisomy (48,XXY, 21) in a twin newborn infant has never occurred.
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ranking = 5
keywords = trisomy
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9/34. trisomy 21 in one of twin fetuses.

    Both the detection of twins and the successful execution of a double amniocentesis pose significant technical problems in prenatal diagnosis. A case is reported in which one of twins fetuses had trisomy 21 and the other was chromosomally normal. Following counseling, the family chose to continue the pregnancy. At term, the mother was delivered of a healthy infant and a severely macerated fetus with stigmata suggestive of Down's syndrome.
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ranking = 1
keywords = trisomy
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10/34. trisomy 18 in monozygotic twins with discordant phenotypes.

    The incidence of trisomy 18 in monozygotic twins is approximately 1 per million. We report a pair of liveborn monozygotic twins with trisomy 18. Both twins had esophageal atresia with tracheoesophageal fistula (type C) and intrauterine growth retardation. Twin A had cleft lip, choanal atresia and perimembranous ventricular septal defect. Twin B had hypoplastic left heart syndrome. The twins died without aggressive intervention at the age of 2 months and 52 hours, respectively. These 2 babies had significantly discordant phenotypes, which suggests an epigenetic or environmental effect. Bioethical considerations remain important in the care of babies with multiple congenital anomalies.
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ranking = 2
keywords = trisomy
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