Cases reported "Down Syndrome"

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11/354. Point nucleotidic changes in both the RET proto-oncogene and the endothelin-B receptor gene in a hirschsprung disease patient associated with down syndrome.

    A short-segment hirschsprung disease (HSCR) patient associated with 21 trisomy showing point nucleotidic changes in both the receptor tyrosine kinase (RET) proto-oncogene and the endothelin-B receptor (EDNRB) gene is reported. A T to A heterozygous transition at the splicing donor site of the intron 10 in the RET proto-oncogene, and a G to A heterozygous substitution in non-coding region in the exon 1 of the EDNRB gene were observed. The familial analysis with these genes revealed that the origin of the former mutation was de novo and the latter one was maternal. No patient has been reported with two points mutations in different pathogenetically susceptible loci for HSCR. There is genetic evidence that the RET and EDNRB genes may interact in their susceptibility leading to HSCR.
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ranking = 1
keywords = trisomy
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12/354. trisomy 21 associated with ovarian dysgerminoma.

    A 13-year-old G(0)P(0) white female with trisomy 21 presented with a complex pelvic mass. She underwent resection of the mass and complete staging for what was found to be a stage IIIC completely resected dysgerminoma. She was treated with three cycles of bleomycin, etoposide, and cisplatin chemotherapy and remains free of disease 1 year later. This association is presented as a rare case that may illustrate the relative increase in germ cell neoplasms in female patients with Down's syndrome. While the association of seminoma with Down's syndrome has been documented in a number of cases in males, the female counterpart of this tumor, dysgerminoma, in trisomy 21 has been reported quite infrequently. The potential for germ cell tumors in both male and female trisomy 21 is therefore illustrated.
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ranking = 3
keywords = trisomy
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13/354. trisomy 21 as the sole abnormality in a refractory anemia with ring sideroblasts.

    Numerous chromosome abnormalities have been described in myelodysplastic syndromes, but single karyotypic aberrations are much less frequent. We report the case of a 65-year-old woman who presented a trisomy 21 as the sole karyotypic anomaly for a refractory anemia with ring sideroblasts. The nature of such an anomaly is discussed in regard to pathogenesis and prognosis.
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ranking = 1
keywords = trisomy
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14/354. prenatal diagnosis of trisomy 20 mosaicism by maternal serum screening for down syndrome.

    We report two cases of prenatally diagnosed trisomy 20 mosaicism associated with positive down syndrome screening at 16 weeks' gestation. Both infants exhibited normal growth and mental development.These cases suggest that the multiple-marker screening test may play an important role in prenatal detection and diagnosis of chromosomal anomalies in addition to down syndrome.
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ranking = 5
keywords = trisomy
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15/354. Esophageal aperistalsis following fundoplication in a patient with trisomy 21.

    Gastrointestinal abnormalities are frequent in patients with down syndrome (DS), gastroesophageal reflux (GER) being prominent among them. A 10-year-old boy with DS presented with progressive daily vomiting and an upper gastrointestinal study documenting reflux. A laparoscopic Nissen fundoplication was performed uneventfully. Postoperative inability to take solids was noted and a contrast study showed a tight gastroesophageal junction and poor peristalsis. Persistent symptoms were not alleviated by esophageal dilatation, despite a relaxing lower esophageal sphincter. Esophageal manometry documented complete esophageal aperistalsis. A percutaneous endoscopic gastrostomy was placed and the patient required long-term tube feeds. Esophageal aperistalsis is a rare condition in DS, likely superimposed on GER. fundoplication may adversely affect the already abnormal esophageal motility in these children. Esophageal manometry preoperatively will identify motility disorders and assist in selecting the best management for these patients.
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ranking = 4
keywords = trisomy
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16/354. Right intrathoracic renal ectopia: a case report and review of the literature.

    We report a case of right intrathoracic renal ectopia associated with a previously unreported congenital anomaly (trisomy 21) and review of the literature.
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ranking = 1
keywords = trisomy
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17/354. trisomy 21 as the sole acquired karyotypic abnormality in acute myeloid leukemia and myelodysplastic syndrome.

    We report five cases of myeloid disorders in which trisomy 21 ( 21) was found as the sole acquired karyotypic abnormality, comprising two cases of acute myeloid leukemia (AML) and three cases of myelodysplastic syndrome (MDS). In this series, MDS patients with 21 presented as high grade disease, which included two cases of refractory anemia with excess of blasts (RAEB) and one case of refractory anemia with excess of blasts in transformation (RAEBt), and showed rapid disease progression. Significant thrombocytopenia was observed in all three patients, and bone marrow examination showed a marked reduction in megakaryocytes. AML patients with 21 included one case each of AML-M2 and M4. Despite the poor prognosis reported in AML patients with 21 as the sole abnormality, the patient in our series who was able to complete intensive treatment was cured of disease. The role of 21 in leukemogenesis is reviewed.
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ranking = 1
keywords = trisomy
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18/354. Imperforate anus, Hirschsprung's disease, and trisomy 21: a rare combination.

    Three well known pediatric problems, Hirschsprung's disease, anorectal anomaly, and trisomy 21, are presented in the same patient. The authors describe the problems encountered in making the final diagnosis and suggest management options when faced with this unusual situation.
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ranking = 5
keywords = trisomy
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19/354. trisomy 21 fetus co-existent with a partial molar pregnancy: case report.

    BACKGROUND: Approximately 1 in 1,000 pregnancies in the united states are complicated by the presence of a hydatidiform mole. A medline search revealed no reported cases of a trisomic fetus co-existent from 1966-1998. We present the case of a patient, initially found to have hypertension, edema, and proteinuria in the first trimester, and later found to have a partial molar gestation co-existent with a trisomy 21 infant. CASE REPORT: A 31-year-old female presented to her family practitioner in the first trimester and was found to have hypertension and proteinuria. A thorough work-up by a nephrologist revealed no cause. The patient was transferred to the Maternal-Fetal medicine Service at 26 weeks' and 1 day estimated gestational age. An amniocentesis revealed the presence of a fetus with trisomy 21. At 27 weeks' and 3 days estimated gestational age, the patient underwent a cesarean delivery for a non-reassuring fetal heart rate. Pathologic examination of the placenta revealed the presence of a partial hydatidiform molar pregnancy. CONCLUSION: The present account represents the first reported case of a fetus with trisomy 21 co-existent with a partial hydatidiform mole.
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ranking = 3
keywords = trisomy
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20/354. A case of mosaic trisomy 21 with Down's syndrome signs and normal intellectual development.

    The present case study describes an adult male with clinical signs of mild Down's syndrome (DS), who performed well at school and reached university level. A karyotype was done on a lymphocyte culture and mosaic trisomy 21 was found in 3% of the 437 cells analysed. Eleven signs from Jackson's checklist were found in the clinical evaluation, which along with the analysis of the subject's dermatoglyphic traits, confirmed the DS diagnosis. Cognitive evaluation was done with several psychological tests and the results were within the average range. This rare phenotypic association shows that normal intellectual development may be possible in DS. This finding could be explained by the low trisomic cell frequency, which may have little effect on the critical tissues for intellectual development, and it might also reflect the wide phenotypic variation in mosaic trisomy 21. Other factors, such as strong family support, early and continued intervention programmes for both physical and speech therapy, and a thorough educational process, also provided opportunities for the development of the cognitive potential of the subject.
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ranking = 6
keywords = trisomy
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