[Genetic and clinical aspects of Usher's syndrome].
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Adolescent↗
Biomedical subjects
I Pană
Publications and source records attributed to I Pană.
[Radiotherapy and cytostatics in the treatment of malignant oculo-orbital tumors].
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Antineoplastic Agents↗
[Results in extraction of intraocular magnetic radio-opaque foreign bodies after localization with the scleral grid and teleradioscopy with brilliance amplifiers].
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Eye Foreign Bodies↗
Turner's syndrome with sympathoblastoma.
A case of Turner's syndrome clinically and cytogenetically diagnosed in a 15-year old girl is reported. At age 4 the girl was hospitalized for renal malformations (doubling of the urethra and its ectopic opening). Laparatomy revealed a small tumoral formation which was removed. The diagnosis established anatomo-histologically was of sympathoblastoma. Since the tumor is genetically conditioned by an autosomal mutation, association of the gonosomial anomaly and sympathoblastoma is supposed to be fortuitious though it is not improbable that the tumor be the result of an embryonar disorder favourized by the chromosomal anomaly.
Adolescent↗
A case of long arm deletion of the X-chromosome in a patient with Turner syndrome.
The work presents the clinical and cytogenetic findings in a 16 year-old female-patient with Turnerian phenotype and 46 XX, del(X)(q 13 leads to q ter) caryotype. The authors discuss the difficulties of correlating the caryotype to the phenotype in X chromosome structural aberation cases.
Adolescent↗
[Partial trisomy 9 (p 12--q ter), "de novo" in mosaic].
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Abnormalities, Multiple↗