Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.4.21.4 (trypsin)
 42,187 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Metaphase chromosomes and interphase nuclei of chorionic villus samples (CVS) in five cases were studied after treatment with trypsin and post-fixation in formaldehyde by chromosomal in situ suppression (CISS) hybridization. Our modified protocol enables the use of in situ hybridization techniques on CVS preparations after 42 h of culture. A balanced translocation and trisomy 13 were identified with the aid of CISS hybridization.
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PMID:Chorionic villus metaphase chromosomes and interphase nuclei analysed by chromosomal in situ suppression (CISS) hybridization. 155 11

Metaphase chromosome analysis from cultured blood lymphocytes was performed in 894 consecutive patients from the year 1981 to early 1989. G-bands by trypsin using Giemsa (GTG) was routinely employed during the last five years supplemented with other banding techniques if required. High resolution chromosome banding was performed in cases suspected of structural chromosome abnormality. Successful studies were obtained in 862 (96.4%). Out of the successful cases, 232 (26.9%) had informative results, and 193 (22.4%) had chromosome abnormalities. Down's syndrome was found in 110 cases. Edwards' and Patau's syndromes were found in 4 and 7 cases respectively. A case of trisomy 14 mosaic was found. There were 2 cases of trisomy 22 syndrome, one case with 46,XX/47,XX,+mar(22) and another case with 46,XX/47,XX,+r(22) karyotype. There were 39 cases of sex chromosome abnormalities, 27 of which had Turner's syndrome. Kline-felter syndrome was found in 8 patients. Triple X syndrome and true hermaphrodite (46,XX/46,XY) was each found in one case. Autosomal deletions were found in 19 patients. Autosomal duplications were found in 4 patients, and autosomal translocations were found in 10 patients. Some of these autosomal structural abnormal cases have been included in the chromosomal syndromes mentioned above.
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PMID:Chromosome analysis of 894 patients. 186 Nov 29

From 1986 to 2002, we examined the chromosomal composition of 916 patients attended by two genetic counseling services in the city of Pelotas, in the Brazilian State of Rio Grande do Sul, to determine the genetic causes of their disturbances. Patterns of G-banding using trypsin and Giemsa (GTG) and C-banding using barium and Giemsa (CBG) were studied using phytohemagglutinin M-stimulated lymphocytes cultured from peripheral blood. Among the patients, 110 had Down's syndrome, 7 had Edward's syndrome, 4 had Patau's syndrome, 29 had Turner's syndrome, 5 had Klinefelter's syndrome, and 3 had "cri-du-chat" syndrome. Abnormal chromosomes were observed in 29.3% of the patients. Most of these (56.3%) were numerical abnormalities, with the remaining being structural variants.
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PMID:Cytogenetics of genetic counseling patients in Pelotas, Rio Grande do Sul, Brazil. 1561 23