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Biomedical subjects

G Schwanitz

Publications and source records attributed to G Schwanitz.

At least 91 records · Page 5Linked to original sources
PubMed1977

Duplication deficiency of an X-chromosome with and without 45,X mosaicism in three girls. Cytogenetic, clinical, and hormonal findings.

In three girls, aged 14, 15 and 16 years, the chromosome analysis revealed a morphologically abnormal, enlarged X-chromosome resembling in size and centromere position the chromosome no. 2. The translocation points were different in all three cases. The Barr-bodies were enlarged. In two girls a 45,X mosaicism (25% and 10%) was found in lymphocyte cultures. The length at birth was 43, 47 and 48 cm, and none of the girls was born before term. The main clinical abnormalities in all three cases were a marked growth retardation, slight morphological dysplasias, lack of sexual development and social immaturity. GH and cortisol secretion during an insulin tolerance test were normal. LH and FSH were elevated and showed an exaggerated reaction on LH-RH. Oestrogens were low normal and androgens within the normal range. At laparatomy the gonads were found to be streak gonads. For two girls cell cultures of gonadal tissue were set up, the chromosome findings of which corresponded to those of the lymphocyte cultures. The abnormality of the gonosomes reported here seems to represent a special form of gonadal dysgenesis. Although the translocation points were different in the three patients and one had no mosaic, while the other two showed 45,X/46,XX mosaicism, the clinical and hormonal findings were nearly the same for all three girls.

Adolescent↗
PubMed1977

Partial deletion of 1q, following a pericentric inversion, in a boy with multiple minor morphologic anomalies and mental retardation.

In a 3 3/4 year old boy with mental and physical retardation, a chromosome analysis from lymphocyte cultures revealed a partial deletion of chromosome 1q following a pericentric inversion. The chromosomes of the parents were normal. The clinical picture of the patient included the following characteristics: prominent occiput, small chin, deep-seated and dysplastic ears, abnormal vortices of the hair, divided tip of the tongue, high palate, small finger and toe nails, inguinal hernia both sides, undescended but normal sized testes, hypotonic musculature and overextensible joints, retardation of ossification in the left hand by 6-12 months, slight osteoporosis, EQ approximately 0.5.

Abnormalities, Multiple↗
PubMed1977

Double autosomal trisomy: case report (48, XX, +18, +21) and review of the literature.

A twelve-months-old female is reported with double trisomy of the autosomes 18 and 21 (48,XX,+18,+21), exhibiting the clinical features of mongolism. The findings of this patient and the data of fourteen previously reported cases with double autosomal trisomy, twelve of them mosaics, may be summarised as follows: The mean birth weight was lower than in the single trisomies D, E, and G. The distribution of the maternal ages at birth of the patients was striking: six mothers were younger than 21 years, seven mothers were older than 34 years. In those patients with prevalence of one of the two extra chromosomes in their karyotypes, the corresponding trisomy syndrome also predominated clinically. In those cases with an equal proportion of both additional chromosomes there were as many patients with clinical predominance of the one as of the other trisomy syndrome. Survival beyond the second half of the first year of life was seen only in those patients who showed the clinical picture of mongolism.

Birth Weight↗
PubMed1977

[Familial translocation 3/22 MAT with partial trisomy 3q (author's transl)].

Two mentally retarded brothers with partial trisomy 3q show clinically similar malformations and deformities : dwarfism, bushy eyebrows, eversion of the nostrils, low inserted ears, high palate, microgeny, low hair insertion, short and broad hands with proximally inserted thumbs, clinodactylia of the 5th finger, syndactylies, mostly arch patterns on the digital pulps, muscular hypotonia, joint relaxation and cryptorchism. Both children had fits of convulsions. The younger boy showed, moreover, a perception deafness. The mother, the maternal grand-mother as well as the phenotypically normal sister of the patients revealed a balanced translocation 3/22 with a karyotype : 46,XX,t(3;22) (q25;p11).

Abnormalities, Multiple↗
PubMed1975

[Contribution to information and genetic counseling in Mekkel's syndrome (author's transl)].

The deformity syndrome nowadays named after Meckel is characterized by the following principal features: occipital encephalocele, cystic kidneys and a polydactyly. According to the available findings in twins and families, an autosomal recessive lethal syndrome is involved. In 8 (= 16.6%) of 48 families, the parents of the feature carrier were blood relations. Heterozygous anlage carriers cannot yet be recognized as such. To make a statement in genetic counselling today, ultrasonic diagnosis and an amniocentesis must be carried out early in a pregnancy at risk.

Abnormalities, Multiple↗
PubMed1975

Partial trisomy 10p.

It is reported on a boy of 4 years 9 months with trisomy of the distal part of the short arm of a chromosome 10, due to a balanced 7/10 translocation in the father. Besides multiple minor dysmorphias the patient showed severe mental retardation, small stature, hypotonia, retarded bone age. The high and bulky forehead was especially remarkable, because this sign has also been noted in formerly reported cases with trisomy 10p.

Abnormalities, Multiple↗
PubMed1975

Partial monosomy 13 as the result of a balanced translocation 3/13 pat.

In a 4 1/3-year old girl we found the karyotype 45, XX, del13(pter yields q12). The father showed a balanced translocation 3/13 (karyotype: 46,XY,t(3;13) (p27;q12). Psychological investigation of the patient revealed almost normal intelligence (DQ91). Clinical symptoms were: low birth weight, growth retardation, dolichocephalus, microgenia, antimongoloid slant of the eyes, edema on hands and feet, strabismus convergens, clubfoot (left), slight decrease in IgA and IgM.

Aneuploidy↗
PubMed1975

[Chromosome investigations in subjects with occupational lead exposure (author's transl)].

The lead content in blood, the excretion of delta-aminolaevulinic acid (ALA) in urine, and the ratio of secondary chromosomal aberrations in lymphocyte cultures were investigated in 105 workers with varying degrees of lead exposure. While the mean lead content was slightly increased (377 plus or minue 207 mug/l) the mean ALA excretion was normal (3,8 plus or minus 4.7 mg/g creatine). Chromosome investigations showed a slightly increased rate of cells with structural abnormalities (14,1 plus or minus 7.0%). Statistical evaluation of these data showed no significant correlation between the lead content in blood, ALA excretion in urine, and cytogenetic findings. No other reason for the increased rate of chromosomal aberrations could be detected.

Aminolevulinic Acid↗
PubMed1975

[Chromosome studies in newborn infants following exchange transfusion using countersexual blood].

The chromosomes of 6 (5 females, 1 male) newborns have been examined before and after exchange transfusion. The highest percentage of donor lymphocytes has been found immediately after the exchange transfusion (9%, range 5 to 16%). The percentage of donor lymphocytes had decreased to 4% after 24 hours and to 1% after 3 weeks. There was no hint of a clastogenic effect of phototherapy and exchange transfusion.

Chromosome Aberrations↗
PubMed1975

[Dermatoglyphics in Noonan's syndrome (author's transl)].

Dermatoglyphics in Noonan's Syndrome A dermatoglyphic analysis has been carried out in 7 boys and 5 girls affected by Noonan's syndrome. No deviation from the general population values was found with respect to individual quantitative value, A line termination, absence of C line, a-b ridge count, hypothenar patterns, and presence of p proximal triradius on soles. Whorls were however increased on fingertips and the axial triradius t, as in Turner's syndrome, was in 21% of the cases in position t' or t".

Dermatoglyphics↗
PubMed1975

[Report on a variant of the fetal-face-syndrome with acral dysostosis (Robinow-Silverman-Smith-Syndrome) (author's transl)].

Besides the typical clinical symptoms of Robinow-Silverman-Smith-syndrome our patient shows a severe dislocation of the hip, feeding difficulties, and a marked morphological and mental retardation. The karyotype was normal, we found a normal banding pattern of all chromosomes (G-banding). In the family of our proband we observed minor skeletal abnormalities.

Body Weight↗