Search PubMed⌕ Search

Biomedical subjects

E Engel

Publications and source records attributed to E Engel.

At least 127 records · Page 7Linked to original sources
PubMed1984

[Partial trisomy for the segment 21(q11----qter) resulting from a de novo translocation between chromosomes 5 and 21].

A 3 1/2-year-old boy is described whose Down syndrome resulted from partial 21 trisomy through unbalanced de novo translocation between the long arm of chromosome 21 and the short arm end of a No. 5: 46,XY,t(5;21)(p15;q11). This case is discussed and compared with 17 others collected from the literature, some of which derived from a maternal balanced translocation.

Child, Preschool↗
PubMed1984

[Variations in the presence of a fragile site on X--fra(X)--according to cases and methods used].

In the nearly last two years, using ten different media combinations in our research for the fragile X, we have observed cytogenetic variations, the knowledge of which may be useful for correct diagnosis. This experience, based on more than 6000 metaphases in 41 cases, includes 5 typical probands, 4 obligate and 4 possible heterozygotes, 19 deficient psychopaths, and 9 controls. Three main techniques were retained as shown in the text. In this study a fragile site was documented on 239 chromosomes of the C or X group, among which 180 could be specifically identified by trypsin Giemsa banding. Of these 180 fragile sites, X involvement was shown in 101 cells, and 55 other lesions were found to affect a chromosome 6. In our experience, none of 1180 cells from 9 control individuals were positive. It thus may be that under rigorous culture conditions the occurrence of one single fragile X at q27 or q28 is suggestive of the presence of the underlying mutation. In 19 cases studied because of mental and psychotic problems, nonetheless considered as clinically negative, only 2 out of 2510 cells had a fragile X, whereas frequency among cytogenetically verified X in our positive cases varied from 4 to 20% cells. We have come to distinguish five variations in the cytogenetic aspect of this site on the X, shown from A to E in a figure, two of which (D and E) may not have been described before. In rare cases this fragility usually seen as a chromatid or isochromatid gap may be present as a break with a resulting "double minute" found elsewhere in the metaphase field.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1983

Acute lymphoblastic leukemia in two children with a congenital chromosome anomaly: familial inv(11)(p15q13) in one and ring chromosome No. 21 in the other.

A congenital chromosome abnormality was found in two unrelated children with acute lymphoblastic leukemia (ALL). In the first case, a pericentric inversion of chromosome No. 11, inv(11)(p15q13), was observed and discovered to be familial, being present in five other members of the family over two generations. In the second case, the presence of a congenital ring chromosome No. 21, 46,XX,r(21), was considered to be the result of a de novo mutation. The possible relation between these congenital chromosome anomalies and a predisposition to neoplasia is discussed and could be explained by different mechanisms: (1) amplification of oncogenic determinants by gene duplication, and/or (2) alteration of the effects of wildtype alleles through deletion or changes in position.

Bone Marrow↗
PubMed1983

Isochromosome 21 and other chromosomal abnormalities in a patient with erythroleukaemia.

Cytogenetic analysis in a patient with erythroleukaemia revealed a hypodiploid cellular clone with several acquired karyotypic aberrations including an isochromosome for the long arm of chromosome 21 : 45,XY,-5,-7,-18,-19,-21, + 17, + i (21q)(qter leads to cen leads to qter), + mar1, + mar2. The markers probably include respectively the major part of chromosome 19 and most of the long arm of chromosome 7. These rearrangements and their potential significance are discussed.

Aged↗
PubMed1983

Sister chromatid exchange in patients affected by severe psoriasis.

An analysis of the sister chromatid exchanges has been carried out in lymphocytes from patients suffering from a severe form of psoriasis--pustular psoriasis (von Zumbusch), eruptive psoriasis vulgaris (more than 30% of the skin surface), severe arthropathic psoriasis and psoriatic erythroderma. These patients had never received treatment for their disorder. Our results, which show a normal level of sister chromatid exchanges in their blood cells, argue against the presence of a mutagenic factor in such patients.

Crossing Over, Genetic↗
PubMed1982

Structural anomalies of the X chromosome: personal observation and review of non-mosaic cases.

We describe a new case of partial deletion of the long arm of the X chromosome, found in a 24-year-old female with secondary amenorrhea; the karyotype of the proposita is 46,X,del(X)(q22). We take this opportunity to review the previously published descriptions of non-mosaic structural anomalies of the X chromosome (X isochromosomes excepted) with the goal of "testing" the recent hypothesis formulated about: (a) the existence of an X inactivation center (Therman et al. 1974b); (b) the presence of a "b" segment remaining active on Xp (Therman et al. 1976); (c) the potential importance of a critical area on Xq linked to gonadal function (Sarto et al. 1973); and (d) the presence of normal gonadal function despite and Xp terminal deletion (Fraccaro et al. 1977). We conclude that the above-mentioned theories, as well as those concerning phylogenetic evolution of sex chromosome morphology presented by Lyon (1974) and Hoo (1975), receive support from practically all of the 149 cases we compared. Regarding the features of the Turner syndrome, we propose "mapping" of the X chromosome as follows: the genes involved in gonadal function seem to be located on the proximal part of Xp and on the distal part of Xq, whereas the genes whose absence is responsible for somatic features of the syndrome may be distributed along the length of Xp and the middle section of Xq(q21-q26). Furthermore, we note some interesting analogies between the evolutional model proposed by Hoo (1975) and the map we visualize.

Adult↗
PubMed1982

A fourth case of ring chromosome 7.

An 8-year-old child with a ring chromosome 7 is presented, the first female and the fourth such individual to be described. The associated anomalies were rather benign: she presented with short stature, minor skeletal alterations, and normal intelligence. The only truly striking feature was the presence of multiple large, pigmented naevi, suggestive of a hamartomatous origin, but unlike those typical of any particular syndrome. Though other ring 7 patients have had naevus flammeus, and one had café-au-lait spots, our proband is the first with an anomaly of chromosome 7 to have such extensive lesions. These four cases of ring 7, which show great phenotypic variation, are reviewed, and the clinical presentation of the proband is also compared with that of patients suffering from terminal, interstitial and translocation-derived 7p and 7q deletions. The formation and behavior of ring chromosomes are discussed, as are the cytogenetic factors which may influence their phenotypic expression.

Child↗
PubMed1981

Marfan's syndrome with 47,XXX genotype and possible immunologic abnormality.

A 2-year-old girl with Marfan's syndrome also had recurrent episodes of upper respiratory infection, otitis media, tonsillitis, and asthma. Chromosomal study revealed the karyotype 47,XXX. Immunologic evaluation showed lack of delayed hypersensitivity skin test response despite previous exposure. The coincidence of Marfan's syndrome and either XXX or immunologic dysfunction has not been reported previously. This case clearly illustrates that more than one abnormality may occur in a single patient.

Child, Preschool↗
PubMed1981

[Implications for genetic counselling in regard to sex chromosome aneuploidies diagnosed by amniocentesis (author's transl)].

It is in the detection of chromosomal aneuploidies that amniocentesis currently renders the greatest service. However, when an anomaly of the fetal sex chromosomes is found, the decision of what attitude to hold in counselling the parents poses a real dilemma, due to the importance of phenotypic variation-notably of intelligence and behavior-in individuals with sex chromosome disorders. It is in such situations that the need for information furnished by prospective studies is particularly evident. Prenatal diagnosis of four cases of sex chromosomal polysomy, detected in the course of approximately 600 amniocenteses, is presented, as are the criteria which may guide the parents in their decision to continue or to terminate a pregnancy so affected.

Amniocentesis↗
PubMed1981

[Significance of chromosomal mosaicism diagnosed by amniocentesis].

Second-trimester amniocentesis, performed in a 39-year-old woman, revealed on two different taps a weak aneuploid cell line 47,XY+C or X (2 clones), with a strong majority of fetal cells being 46,XY normal (15 clones). A chromosome examination carried out on cord blood after the birth of a phenotypically normal infant confirmed the presence of mosaicism, with 12% of the cells being 47,XXY. The authors consider the manner in which mosaicism diagnosed by amniocentesis may be interpreted, pointing out the danger of hasty conclusions in this domain, which has not yet been adequately explored.

Adult↗