Cases reported "Down Syndrome"

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11/14. The first reported case of down syndrome in the Southern california fertility Institute's in vitro fertilization and embryo transfer program.

    The first case of a genetic abnormality in a 3-year in vitro fertilization and embryo transfer program was diagnosed after routine amniocentesis of a 38-year-old patient. The G-banded karyotype analysis gave 47, XY, 21, which constitutes an abnormal chromosome pattern consistent with down syndrome.
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12/14. Further observations of ocular pathology in Down's syndrome.

    We studied the eyes of two children with proven trisomy 21 and updated the microscopic ocular findings. The ocular malformations, generally of a minor nature, comprise a variety of nonspecific hyperplasia or hamartomata, hypoplasias, tissue defects and heterotopias, and involve virtually every portion of the globe. Ocular and extraocular abnormalities in Down's syndrome do not correlate well embryologically, cytogenetically or in regard to incidence or severity. The type of ocular anomalies usually encountered in trisomy 21 suggests that the globe was affected by the chromosomal anomaly rather late in its development.
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13/14. Extragonadal choriocarcinoma in a patient with down syndrome.

    There are several reports suggesting that there is a higher incidence of leukemia and testicular cancer in patients with down syndrome. Fifteen patients with Down syndrome and testicular cancer were previously reported. The median age at diagnosis of testicular cancer was 18 years, (range: 3-45). The histologic subtypes were seminoma in 9 patients, not specified in 2 patients, and 1 patient each of adenocarcinoma, yolk sac, embryonal, and teratocarcinoma. In this article we describe a case of extragonadal choriocarcinoma in a patient with down syndrome. To our knowledge, this is the first case ever reported. The patient had a complete remission following chemotherapy with cisplatin, etoposide, and bleomycin and is disease-free with a follow-up of 32 months. patients with down syndrome and advanced testicular cancer should be treated with potentially curative chemotherapy.
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14/14. Down's syndrome associated with intracranial germinoma and testicular embryonal carcinoma.

    In patients with Down's syndrome, the frequency of leukemia is significantly greater than normally would be expected. However, cancers other than leukemia have been reported to occur rarely. We present a case of Down's syndrome associated with intracranial germinoma and testicular embryonal carcinoma. Currently, no case of double primary carcinomas in Down's syndrome has been reported to the authors' knowledge.
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