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Query: UMLS:C0403608 (ureter)
 9,655 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Close phenotypic similarity between two cases carrying a rec(3) dup q,inv(3) (p25q21), 12 additional infants from the same inv (3)(p25q21) kindred who lived less than 1 year, and eight cases studied in other medical centers has led us to postulate the existence of a distinct chromosome 3 duplication-deletion syndrome. In the presence of trisomy for (3)q21 leads to qter and monosomy for (3)p25 leads to pter, the facial dysmorphy is unique: a distorted head shape due to irregular cranial sutures, thick low eyebrows, long eyelashes, persistent lanugo, distended veins on the scalp, hypertelorism, oblique palpebral fissures, a very short nose with a broad depressed bridge and anteverted nares, protruding maxilla, thin upper lip, micrognathia, low-set ears, and a short webbed neck. Port-wine stains, congenital glaucoma, cloudy corneas, cleft palate and harelip also occur frequently. Each infant has difficulty sucking and swallowing. Congenital anomalies of the cardiovascular system, of midgut rotation, and of the urogenital system are noted for the infants who died neonatally. Most frequent is a ventricular septal defect, followed by atrial septal defect, patent ductus arteriosus, patent foramen ovale, and coarctation of the aorta. Omphalocele, umbilical hernia, hyperplastic kidneys, polycystic kidneys, double ureter, hydro-ureter, hydronephrosis, and undescended testes often occur. The extremities are short in proportion to the length of the trunk. Clinodactyly, coxa valga, talipes, and spina bifida are frequently observed.
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PMID:Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21). 120 27

Primary transitional cell carcinoma of the ureter is a relatively rare cancer. A case of transitional cell carcinoma of the mid-portion of the ureter in an adult male has been studied cytogenetically and has been found to have trisomy of chromosome #7 (+7) as the only karyotypic abnormality. In an earlier instance of transitional cell carcinoma of the ureter, we observed trisomy 7 together with monosomy 9 and an isochromosome for 5p. The relation of this observation to the cytogenetic findings in transitional cell carcinoma of the bladder is discussed and their possible significance evaluated. The rarity of the cytogenetic findings in these tumors is stressed, as is the possible role played by the chromosomal change in this condition, which may possibly involve the c-erb B oncogene.
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PMID:Chromosome change in transitional cell carcinoma of ureter. 394 51

Cytogenetic investigation was attempted on 44 tumors from 44 patients with transitional cell carcinoma (TCC) of the upper urinary tract (pelvis and ureter), and karyotypes were obtained in 27 tumors. Numerical changes prevailed, but are not specific for this type of tumor (trisomy 7, -Y, or both). In the light of previously reported data on TCC, the finding of a del(9q) as the only anomaly in one of the cases may be meaningful. Patients showing -Y and/or trisomy 7 had a poor prognosis.
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PMID:Cytogenetic investigation of transitional cell carcinomas of the upper urinary tract. 1054 67

We report a case of maternal isodisomy 10 combined with mosaic partial trisomy 10 (p12.31-q11.1). Chromosome examinations from a CVS sample showed a karyotype 47,XX,+mar/46,XX [corrected]. The additional marker chromosome which was present in 6/25 interphase nuclei was shown by fluorescence in situ hybridization (FISH) to have been derived from a pericentromeric segment of chromosome 10. DNA analysis was performed from umbilical cord blood from the fetus after termination of the pregnancy at 18 weeks. The results showed that the two structurally normal chromosomes 10 were both of maternal origin, whereas the marker chromosome derived from the father. Autopsy of the fetus revealed hypoplasia of heart, liver, kidneys and suprarenal glands, but, apart from a right bifid ureter, no structural organ abnormalities. This fetus represents the second reported instance of a maternal uniparental disomy (UPD) 10.
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PMID:Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus. 1200 Nov 99