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Biomedical subjects

E Engel

Publications and source records attributed to E Engel.

At least 145 records · Page 8Linked to original sources
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↗
PubMed1981

[Distinctive features of euploid-aneuploid mosaicisms diagnosed by amniocentesis (author's transl)].

Although infrequent, mosaicism in amniotic fluid may lead to a questionable diagnosis. From a personal case and a general review of the literature the authors conclude that euploid-aneuploid mosaicism must be strongly considered as real if it is expressed in more than one clone, in more than one flask, if it is confirmed by a second amniocentesis and if the abnormal cell line is caused by the loss or acquisition of a chromosome compatible with a known pattern or syndrome. Other patterns documented in such a material have to be considered on their own merits as they may or may not be confirmed after birth.

Amniocentesis↗
PubMed1981

[Multisynostotic osterodysgenesis and the problem of genetic counseling in newly-identified syndromes (author's transl)].

The authors report two female infants affected with a skeletal malformation syndrome, recently identified and probably genetic in nature, which includes as principal features a craniosynostosis with secondary midfacial hypoplasia and a characteristic facies. More specifically, the skeletal alterations include synostosis of the radius and humerus, congenital bowing of the femurs with fracturing during the neonatal period, and other minor anomalies of the thorax and extremities. The differential diagnosis includes serveral skeletal dysplasias such as the Campomelic syndrome, certain of the Acrocephalosyndactylies, and Osteodysgenesis Imperfecta. However, global comparison of the clinical and radiographic features permits their exclusion, allowing the consideration that we are dealing with a new syndrome, which has been named Multisynostotic Osteodysgenesis. The etiology of this disorder has not been elucidated, the two cases being isolated and without parental consanguinity. The authors, however, favor the theory of autosomal dominant inheritance. The difficulty of providing genetic counseling in the case of such poorly-understood syndromes is emphasized.

Abnormalities, Multiple↗
PubMed1980

The syndrome of multisynostotic osteodysgenesis with long-bone fractures.

Described here are two patients with a newly recognized syndrome of bone and cartilage maldevelopment which, we believe, results from a single embryonic defect, probably of genetic origin. The cardinal manifestations of this association are craniosynostosis, radiohumeral synostosis (RHS), and femoral bowing. Specific secondary defects include midface hypoplasia with characteristic facial appearance and ears, neonatal femoral fractures, and multiple minor anomalies of the limbs. Though the differential diagnosis includes such disorders as the campomelic syndrome, osteogenesis imperfecta (OI) and certain of acrocephalosyndactyly syndromes, the unique combination of clinical and radiographic abnormalities allows ready differentiation. The cause cannot be determined from these two cases.

Bone Diseases, Developmental↗
PubMed1980

Genetic and endocrine findings in a 48,XXYY male.

Characteristics of a 16-yr-old male with a 48,XXYY karyotype are presented; this chromosome constitution was demonstrated consistently in four tissue studied. Basal gonadotropins were elevated, and serum testosterone varied between 3.2-4.0 ng/ml. A pronounced rise was observed in LH after LRH administration with a lesser rise of FSH. The testis displayed hyperplasia of the interstitial cells, tubular atrophy, absent spermatogenesis with preservation of some Sertoli cells, and peritubular fibrosis. The phenotypic, behavioral, endocrine and pathological features of this patient are compared with those found in males with the 47,XXY and 47,XYY syndromes. The 48,XXYY phenotype may result from compounding effects of the additional X and Y chromosomes.

Adolescent↗
PubMed1980

[A new genetic concept: the uniparental disomy and its potential effect, the isodisomy (author's transl)].

In recent years, cytogenetic studies of spontaneous abortion products have disclosed the relatively high frequency of aneuploid embryos. These karyotypic anomalies chiefly stem from meiotic errors affecting the distribution of the chromosomes in one of the two gametes fused into a zygote. The gathered information not only implies the remarkable frequency of gonocyte aneusomy, it also reveals the prevalence of certain types of errors. It follows that gametal haploidy is often altered by the loss (nullisomy) or the addition (disomy) of certain members, in particular the X, the Y and chromosomes 15, 16, 21 and 22. It is therefore to be expected that, for some exceptional zygotes, the preservation of euploidy could result from the random union of a disomic gamete with a gamete nullisomic for a same member. To this hypothetical phenomenon, which is however statistically likely and foreseeable, we have ascribed the name of uniparental disomy, owing to the fact that both members of such a pair arise only from one parent, the mother or the father, instead of both. Furthermore, such a mechanism implies the major probability of introducing into the genome pairs of chromosomes with whole sequences of identical alleles, a consequence which we describe by the neologism of isodisomy. Such an extended homozygosity for series of colinear alleles implies from the genetic standpoint risks and advantages akin to those of parental consanguinity. An analogous mechanism could also modulate and modify the consequences of trisomies in which entire segments of two or the three implicated chromosomes, including the supernumerary one, could as well be iso-allelic (isodisomic trisomy or di-isotrisomy). The article briefly states some other predictions steming from the concept of uniparental disomy, whose confirmation should serve as a test of the proposed hypothesis.

Aneuploidy↗