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Biomedical subjects

I Halbrecht

Publications and source records attributed to I Halbrecht.

At least 55 records · Page 3Linked to original sources
PubMed1984

New anomalies found in the 11q-syndrome.

The cytogenetic analysis of an infant with multiple congenital anomalies revealed a small deletion of the long arm of one No. 11 chromosome: 46XX del 11 (q23-q25). The main clinical manifestations included: trigonocephaly, flat broad nasal bridge, micrognathia, carp mouth, hypertelorism, low set ears, severe congenital heart disease, anomalies of limbs and external genitalia. In comparison to the previously reported cases of 11q-, the patient presented here had congenital anomalies not described before, including severe affected urogenital system, hypoplasia of the adrenal, accessory spleens and mild hydrocephaly.

Abnormalities, Multiple↗
PubMed1983

Familial fragility on chromosome 16 (fra 16q22) enhanced by both interferon and Distamycin A.

A family with a "fragile site" at 16q22, inducible by both interferon and Distamycin A, is reported. Immunological problems were found in the family. In a sibship of ten, eight children had died in infancy. Our study led to the conclusions that interferon and Distamycin A induce fragility at the same site, which has the same characteristics as the spontaneous fragile site; that a viral hypothesis for this fragility may be supported; and that immunoincompetence of one kind or another must be considered in families presenting a fragile site at 16q22.

Adult↗
PubMed1983

Marker chromosomes in a family with high incidence of cancer.

Two young sisters presenting with malignant or premalignant conditions inherited two marker chromosomes (a 13p- and a 16 with a fragile site at q22). Malignancy was reported in the family on both the mother's and father's side. According to data from the literature on similar markers and from our personal observations, a possible significance may be suggested for these markers. Search for markers must be encouraged in families with high incidence of cancer. Eventually, we may find markers which will help in understanding the processes of carcinogenesis and possibly indicate individuals at risk.

Adult↗
PubMed1983

Sialic acid in lymphocytes and sera from mothers and their newborns after normal deliveries.

Sialic acid was determined in newborn and maternal lymphocytes as well as in newborn and maternal serum immediately after normal deliveries. A significant increase in sialic acid in newborn as compared to maternal lymphocytes was found. Sialic acid concentration seems to be sex-dependent for newborn lymphocytes only, and higher concentrations of sialic acid were observed in male as compared to female newborn lymphocytes. No differences between the sialic acid concentration in maternal and control lymphocytes could be found. In newborn serum, sialic acid was significantly reduced as compared to maternal or control serum. No sex-linked differences were observed. No differences between the concentration of maternal and control serum were detected.

Female↗
PubMed1982

Prostaglandins and cyclic-AMP in human semen.

Normospermic, oligospermic and azoospermic semen samples were analysed for prostaglandins of the E groups and for cyclic AMP. The whole procedure was rapidly performed in a nitrogen atmosphere. Higher levels of total PGEs (PGEs+19-hydroxy PGEs) were found in normospermic (135.6 micrograms/ml) than in either oligospermic or azoospermic semen. The average level of cyclic AMP in normospermic semen (32.0 nmole/ml) did not differ significantly from the test groups, but very low levels were found only in oligo and azoospermic semen. The correlation coefficient between cyclic AMP and total-PGE concentrations was +0.36. The correlation coefficient between cyclic AMP level and percentage of motile sperm cells was +0.56 (p less than 0.0005). Patients who were treated for two months with a daily dose of 50mg clomiphene citrate exhibited significant elevation of cyclic AMP in their seminal fluid. This finding suggests that cyclic AMP is important for sperm motility and that the clomiphene effect on human semen may be mediated by cyclic AMP.

Clomiphene↗
PubMed1982

Partial monosomy of chromosome 2. Delineable syndrome of deletion 2 (q23-q31).

A malformed, severely retarded 20-year-old female is reported with deletion 2 (q23-q34) in mosaic. The clinical features are compared with those of other reported cases presenting partial monosomy 2q at the segment q23-q31. The stigmata are not very characteristic although a large constellation of features is in common and a definition of a partial monosomy 2 (q23-q31) syndrome seems possible. The features are: poor neurologic development and unresponsiveness to stimulation, growth and mental retardation, low set ears, antimongolian slant, ptosis, cataracts, median cleft of soft palate, severe scoliosis, flexion deformity of fingers, cleft between II and III toes, cardial defect.

Abnormalities, Multiple↗
PubMed1981

Prostaglandin E2 and cyclic AMP in tumor and plasma of breast cancer patients.

Prostaglandin E2 and cyclic AMP (cAMP) levels were measured in tumors and plasma of 78 patients with benign and malignant breast tumors. Two groups of malignant tissues were found, one with a high level of PGE2 (M = 55.4 pg/mg) and one with a low level (M = 10.7 pg/mg). The low level did not differ significantly from the benign tissue level (M = 8.7 pg/mg). Two malignant groups could not be detected in the plasma levels. Plasma PGE2 concentration (in form of the 13,14-dihydro-15-Keto metabolite) did not reflect the tissue levels, and no difference was found between the benign (M = 59.9 pg/ml) and the malignant (M = 62.3 pg/ml) patients, but both concentrations were higher than those of healthy controls (M = 34.4 pg/ml). The stage of the cancer, the histological classification and, most important, the period of survival, could not be related to the differences in the PGE2 tissue levels. Neither could plasma cAMP be nominated as a breast cancer market because no difference was found between the cAMP levels of benign tumor patients (M = 16.48 pmol/ml), of malignant tumor patients (M = 21.14 pmol/ml) and of healthy controls (M = 19.07 pmol/ml). The conclusion is that although high amounts of PGE2 appear in some malignant breast tumors, they do not affect the clinical situation. These results may explain the failure to treat human breast cancer patients with prostaglandin synthetase inhibitors.

Adult↗
PubMed1981

Studies of banded chromosomes in patients with acute lymphocytic leukemia, including one patient with the Burkitt-type (L3).

Studies on banded chromosomes of 10 patients with acute lymphocytic leukemia (ALL) are reported. The group is small but quite representative. 60% of the patients had a clonal abnormality: a Philadelphia chromosome and chromosome #7 abnormalities were seen in one patient; a marked hypodiploid clone (32 chromosomes) and its duplicate was seen in another; hyperploidy of 49 chromosomes (+4 +17 +21) was seen in a third patient, and 3 patients were found to have a 6q-abnormality. One of these patients had an L3, Burkitt-type of ALL. A translocation t(8;14) has frequently been found in this type of ALL. The findings confirm the nonrandomness of particular cytogenetic abnormalities in ALL and the possibility of the existence of different aberrations in apparently identical clinical entities.

Adolescent↗
PubMed1981

49,XYYYY. A case report.

A 14-month-old boy with a 49,XYYYY karyotype is reported. The physical examination revealed unusual facial features, brachydactyly with clinodactyly, limitation of supination at the left elbow, and inguinal hernia. Radiological abnormalities of the skeleton and urinary tract were present, and the developmental examination showed a DQ of 70.

Abnormalities, Multiple↗
PubMed1981

Normal psychomotor development in a child with mosaic trisomy and pericentric inversion of chromosome 9.

A female infant with trisomy 9 in 58% of her cells is reported. Multiple congenital malformations were present, but she had normal psychomotor development. A pericentric inversion involving a portion of the centromeric heterochromatin of chromosome 9 was identified in the patient and her mother. This variant chromosome 9 was present in duplicate in the trisomic line. Since similar variants of 9qh have been found repeatedly in this syndrome, we feel that this association may be a non-random one.

Chromosome Banding↗
PubMed1981

Unilateral radial aplasia and trisomy 22 mosaicism.

A child with unilateral radial aplasia, asymmetry, other malformations, and severe physical and mental retardation is reported. In blood and bone marrow cultures a low mosaicism for trisomy 22 was found. In a few cells a chromosome 22 was missing. The importance of early cytogenetic analysis on large numbers of cells is emphasised, especially in cases of asymmetry where mosaicism is suspected.

Abnormalities, Multiple↗
PubMed1980

The fragile site on chromosome 16 (q21q22). Data on four new families.

The significance of the fragile site on 16 (q21q22) has not yet been fully evaluated. New data will contribute to the understanding of this cytogenetic finding. Therefore we report on four families where a chromosome 16 with fragile site was segregating and such problems as infertility, abortions, malformations, and aneuploidy were present. The hypothesis that this fragile site is a site of viral modification (or integration?) is considered.

Abortion, Habitual↗