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Biomedical subjects

E Orye

Publications and source records attributed to E Orye.

At least 19 recordsLinked to original sources
PubMed1991

Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization.

The isochromosome 12p (i(12p)) in fibroblasts of 3 patients with Pallister-Killian syndrome and one decreased prematurely born neonate, was characterized by fluorescent in situ hybridization (FISH) using chromosome 12-specific DNA probes. FISH is a useful technique for rapid and reliable detection and characterization of the i(12p) chromosome in Pallister-Killian patients. Detection was possible also in interphase cells. In addition, the in vitro selection against i(12p) cells at different passages in fibroblast cultures of two patients was monitored.

Abnormalities, Multiple↗
PubMed1988

Hypoplastic left heart syndrome and 45X karyotype.

A review of 63 patients with 45X karyotype (Turner's syndrome) admitted to a hospital from 1972 to 1985 showed that 20 (32%) had one or more major cardiac malformations (mostly coarctation and aortic stenosis). Four (20%) died in the neonatal. One infant had mitral stenosis and severe aortic stenosis and died at the age of 35 days. The three (15%) other patients who died had a typical hypoplastic left heart syndrome, with an atretic aortic valve in two and pinpoint aortic valve in one. Turner's syndrome was clinically suspected in three of the cases. One of these had mosaicism (46XX,45X) the others had a 45X pattern. During the same period (1972-85) 39 patients (14 girls and 25 boys) were admitted with diagnosis of hypoplastic left heart syndrome. Three (21.4%) girls had a 45X karyotype. The high incidence of hypoplastic left heart syndrome in Turner's syndrome and of Turner's syndrome in girls with hypoplastic left heart syndrome suggests that hypoplastic left heart syndrome can be another expression of the 45X karyotype.

Female↗
PubMed1985

Meningeal leukaemia in the blastic phase of chronic granulocytic leukaemia.

A 51/2-year-old boy is presented with chronic granulocytic leukaemia and blastic transformation whose clinical course is complicated by meningeal leukaemia. In the authors' opinion prophylactic central nervous system therapy should be part of the initial therapy of blastic transformation.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1985

beta-D-N-acetylglucosaminidase, a new cytochemical marker of human lymphocyte subpopulations.

beta-D-N-acetylglucosaminidase staining characteristics of rosetted or non-rosetted normal and malignant lymphoid cells were compared with those observed after nonspecific esterase and acid phosphatase staining. With the three cytochemical techniques a similar staining pattern was observed in T cells (E-rosettes), their subpopulations T mu and T gamma, B cells and the non-T, non-B cells, as well as in the T cell populations defined with the monoclonal antibodies OKT3,4 and 8. T mu cells mostly displayed a "dot-like" reaction, T gamma and the non-T, non-B cells a "fine to heavy granular" reaction, while most B cells were negative. OKT4 and OKT8 positive lymphocytes showed for the larger part a dot-like staining pattern, however, the frequency of cells with a granular pattern was distinctly higher in the OKT8, than in the OKT4 positive cells. E(+)mIg(-) and E(-)mIg(-) A.L.L. blasts stained either with a dot-like or granular pattern or failed to react when stained cytochemically for beta-D-N-acetylglucosaminidase, nonspecific esterase and acid phosphatase activity. Only in a few instances a discrepancy was observed between the types of staining for esterase and acid phosphatase on one hand and those for beta-D-N-acetylglucosaminidase on the other.

Acetylglucosaminidase↗
PubMed1985

Mosaic and non-mosaic trisomy 15q2.

Two unrelated patients are presented. In the first mosaicism with normal cells and cells trisomic for the distal long arm (q2) of chromosome 15 was found. The 15q2 trisomy was due to a chromosome 14, to the long arm of which an extra 15q2 region was attached (14pter----14q32::15q22----15qter). In the second trisomy 15q2 was present as a consequence of a balanced t(7;15)(p22;q15) translocation in the mother.

Chromosome Banding↗
PubMed1985

De novo distal trisomy 17q.

A boy is described, who shares many of the clinical features found in the few patients with a partial 17q trisomy known at present. Karyotyping revealed a de novo 17q+ chromosome, interpretable as a tandem duplication of the distal long arm region 17q25.

Child, Preschool↗
PubMed1985

Trisomy 10p, due to an unusual translocation.

A mentally retarded boy with short stature, craniofacial dysmorphia, clubfeet, hypertonia and several other congenital anomalies is described. Chromosome analysis revealed a trisomy 10p, due to a peculiar t(10 ; 14) (p11 ; p12) translocation.

Abnormalities, Multiple↗
PubMed1984

Beta-glucuronidase activity in human T and B lymphocytes and the Tmu and T gamma subpopulations.

The beta-glucuronidase staining characteristics of isolated T cell populations and the Tmu and T gamma enriched fractions derived of them were studied. T gamma lymphocytes were obtained from purified T lymphocytes by ox-IgG rosette sedimentation. The rosette-forming cells in the pellet were referred to as T gamma lymphocytes, whereas the lymphocytes in the interface were referred to as T gamma depleted or Tmu lymphocytes. B cells were studied on rosetted mononuclear cells with either mouse erythrocytes or with Staphylococcus Aureus (Cowan I) bacteria, after a preceeding polyvalent anti-human Ig treatment of the cells. While B cells showed mostly no reactivity, Tmu and T gamma cells were respectively characterised by a "dot-like" and "granular" pattern of reactivity. These findings are in agreement with those observed by others after alpha-naphthyl-acetate esterase or acid phosphatase staining. Within the T lymphocyte fraction, the T non-mu, non-gamma lymphocytes seemed to have a granular pattern of reactivity. The same staining pattern was found in non-B, non-T lymphocytes.

B-Lymphocytes↗
PubMed1984

Trisomy 3p syndrome. Report of a new case, due to a chromosomal insertion.

A new case of the trisomy 3p syndrome is described. The propositus showed mental and growth retardation and many of the congenital anomalies typical of this syndrome. Chromosome analysis in the propositus revealed an enlarged short arm of chromosome 4. In the mother a similar chromosome 4 was found and, in addition, an abnormal chromosome 3 with a deleted short arm. The karyotype of the mother was interpreted as resulting from a balanced insertional translocation. GTG bands p21 and p22 of chromosome 3 were inserted into the short arm of chromosome 4.

Chromosome Aberrations↗
PubMed1983

A new, simple and rapid method for enumerating human T lymphocytes in full blood: the E. coli (ATCC 11303) rosette test.

A new bacterial rosette technique for enumerating T lymphocytes is described. E. coli (strain B; ATCC 11303), fixed in formaldehyde after overnight growth in thioglycolate medium, are mixed with washed whole blood cells (100 microliters) and after incubation at 4 degrees C, slides are made, stained and counted. The nature of the lymphocytes forming E. coli rosettes was demonstrated by comparing their cytochemical staining characteristics with those of E rosetted lymphocytes, and by mixed E. coli and E, mouse E rosette and Fc receptor tests, and by mixed E. coli rosette tests and anti-Ig staining. E. coli and E rosette tests in controls and pediatric patients were also compared. The results show that T mu and T gamma cells rosette with E. coli.

B-Lymphocytes↗
PubMed1983

Pentasomy 21 characterizing spontaneously regressing congenital acute leukemia.

Pentasomy 21 was found to characterize the proliferating cells in a case of transient congenital acute leukemia (or congenital acute leukemia) with spontaneous remission. The patient was phenotypically normal, and cytogenetically no evidence could be found for the existence of a mosaic with a normal cell line and one with more than two No 21 chromosomes. The importance of these findings is discussed.

Acute Disease↗
PubMed1983

Distal trisomy 14q due to tandem duplication (q24 leads to q32).

An elongated long arm of chromosome 14 was found in a male child. GTG-banding analysis indicated a tandem duplication (q24 leads to q32). The child showed several congenital anomalies in common with the ten cases of distal trisomy 14q, known at present.

Abnormalities, Multiple↗
PubMed1976

A new chromosome deletion syndrome. Report of a patient with a 46,XY,8p- chromosome constitution.

A mentally retarded boy with narrow cranium, high forehead, epicanthic folds, flat nasal bridge, low-set but normal ears, retrognathy, short neck and broad chest with wide-set nipples is described. The routine chromosome and banding analyses revealed a 46,XY,8p- chromosome constitution. The parents had normal chromosomes. On the basis of measurements on reflectodensitometer tracings and of measurements of the individual G-bands directly on photographic prints of the normal and abnormal chromosome 8, an intercalary deletion of band p22 seemed most probable. The clinical features of the patient are compared with the 8p- case of Lubs & Lubs (1973) as well as with four other cases of short arm deletion of an unidentified C-autosome. The clinical features of one of these cases were very similar to those of the boy described. An attempt was made to delineate the clinical characteristics of this new chromosomal deletion syndrome.

Child↗
PubMed1975

Short arm deletion of chromosome 12: report of two new cases.

Two boys (W.M. and C.P.) are described, in each of whom a short-arm deleted C chromosome was apparently present. The clinical findings on W.M. are stenosis of the sagittal sutura associated with atrophy of the nervus opticus and mental retardation, and on C.P. osteogenesis imperfecta. An analysis of the G- and Q-banding patterns revealed in each patient a 12p-- chromosome. The deletion involved most of band p12 as shown by length measurements on G-banded chromosomes. Both cases were compared to proven and presumed cases of 12p-- from literature, but no common clinical phenotype could be demonstrated.

Chromosome Aberrations↗