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Biomedical subjects

A Schinzel

Publications and source records attributed to A Schinzel.

At least 253 records · Page 14Linked to original sources
PubMed1977

[Slipped capital femoral epiphyses in ten members of one family: probably autosomal dominant transmission with variable penetrance (author's transl)].

Ten members of a family suffered from slipped capital femoral epiphyses (ECF), and two further descendants had coxarthrosis possibly following subclinical course of an ECF. This pedigree is suggestive for a dominant inheritance with variable penetrance. Besides a few families with more than two affected members, almost 95% of the cases in the literature occur sporadically, many of these probably representing phenocopies. In view of the recurrence risk (at least 5% in sporadic cases), genetic counseling of the parents of any patient is recommended. Since early onset of treatment improves the prognosis considerably, parents of an affected child should be informed to pay special attention to early symptoms in their younger children. Moreover, preventive radiological examinations may be indicated in families at a higher risk. For imminent ECF, bilateral epiphyseal spiking is the treatment of choice.

Adolescent↗
PubMed1976

Further delineation of the clinical picture of trisomy for the distal segment of chromosome 13: report of three cases.

Three cases of partial trisomy for the distal segment of chromosome 13 are reported. Common clinical features included normal birth weight, postnatal asphyxia, convulsions, severe psychomotor retardation, normal growth, and a distinct pattern of dysmorphias consisting of trigonocephalic head with prominent metopic suture, long and markedly curved eyelashes, a stubby nose, increased distance between nose and upper lip, high-arched palate, misshapen ears with virtually absent lobules and prominent anthelices which are curved in a sharp angle, and hemangiomata. Features present in 2 cases were microcephaly, long and narrow fingers with convex nails, and hexadactyly. Two cousins were unbalanced offspring of a large family of carriers of a 9/13 translocation, whereas the third case exhibited a 13p+ chromosome which was formed de novo. The clinical features in the 3 patients are typical of the syndrome due to partial trisomy for the distal segment of chromosome 13 which shows selected and mitigated signs of full trisomy 13.

Abnormalities, Multiple↗
PubMed1976

Lymphocyte chromosome studies in humans exposed to chemical mutagens. The validity of the method in 67 patients under cytostatic therapy.

Eighty-three lymphocyte cultures from 67 patients exposed to high therapeutic doses of chemical mutagens and from 10 healthy controls were examined for structural aberrations of the chromatid type (gaps, breaks and exchanges) and chromosome type (rings, dicentrics, acentric fragments and abnormal chromosomes) in order to evaluate the reliability of this testing system. Most of the patients had received several drugs; a few had radiotherapy as well. Owing to insufficient yields of mitoses at shorter incubation periods a culture time of 72 h had to be chosen. Whenever possible, 100 mitoses were analyzed. Because evaluation is highly subjective, gaps (i.e. interruptions of the chromatid structure not clearly exceeding a chromatid's width) were not included in the results. The incidence of chromatid breaks was 0--2% in the controls and 0--4% in most of the patients. In 6 cases containing 5--15% mitoses with chromatid breaks and exchanges, these values did not correlate with increased incidences of chromosome type aberrations. The incidence of chromosome type aberrations was 0--1% in the controls as well as in 19/20 patients who had received anti-metabolites and spindle poisons only and in 22/53 patients who had received therapeutic irradiation and/or well-known clastogenic agents. From these findings it is concluded that an increased incidence of chromatid breaks and exchanges is not a typical finding in lymphocyte cultures of persons exposed in vivo to chromosome breaking agents, and that a normal incidence of chromosome type aberrations does not exclude exposure to massive doses of clastogens. This testing system is therefore judged to be inadequate for monitoring weak or questionable mutagens in exposed populations.

Adolescent↗
PubMed1975

Trisomy 9p due to paternal translocation, t(9;13) (q13;q12).

A 16-year-old girl with trisomy 9p is described. She had a short stature, severe mental retardation and the following abnormal clinical findings: peculiar face with hypertelorism, downward slanting palpebral fissures, convergent strabismus, a bulbous nose with broad and prominent bridge, short upper lip, narrow, high-arched palate; short neck with low hairline; severe kyphoscoliosis and a congenital clubfoot deformity; hypoplasia and dysplasia of several phalanges of the fingers and toes and some nails, a delay by about 6 years in bone age, and remarkable dermatoglyphic patterns. The father and 3 other family members carried a balanced translocation between chromosomes 9 and 13, t(9;13)(q13;q12).

Abnormalities, Multiple↗
PubMed1975

[Triploidy as a cause of midtrimester gestosis(author's transl)].

The authors report a case of triploidy in a prematurely born child. The pregnancy was complicated by severe toxemia beginning during the second trimester and terminating in preeclampsia leading to cesarian section in the 33th week of gestation. The externally female child was underweight, hypotonic and asphyctic and died shortly after birth. She exhibited a complex brain malformation including excessive hydrocephaly, cebocephaly and aplasia of the piturary gland, and multiple dysmorphic signs. Autopsy revealed hypoplasia and dysplasia of the adrenal glands; no uterus, tubes and ovaries were present, but no testes were found. The placenta showed localized hydatidiform degeneration and was relatively large. The karyotype was 69,XXY, and with the aid of fluorescence markers, paternal origin of the additional haploid chromosome set was demonstrated. Typical findings in pregnancies with fetal triploidy are discussed and the possibility of prenatal diagnosis of triploidy by chromosome analysis in cultivated amniotic fluid cells is pointed out.

Abnormalities, Multiple↗
PubMed1975

Structural aberrations of chromosome 18. II. The 18q- syndrome. Report of three cases.

3 cases of the 18q- syndrome, 2 boys and 1 girl, are presented, and a comparison with data from the literature is given. The following features are typical of the syndrome: short stature, mental retardation, muscular hypotonia, a peculiar dysmorphia of the face and ears, cryptorchidism and small scrotum in males, proximally implanted thumbs, tapering fingers, excess of whorls on the fingertips, and dorsally implanted second toes. Midface hypoplasia with hypertelorism and cleft palate, as well as strabismus, were present in 2 of our patients, whereas all 3 showed nystagmus and prominence of anthelix and antitragus. In addition, 2 patients exhibited narrow ear canals and impaired hearing. One patient had coloboma of the iris and choroid, pale optic discs, and cleft lip; another had umbilical and inguinal hernias. Two cases represented de novo deletions of the long arm of chromosomes 18, whereas the karyotype of the father of third case revealed a balanced translocation t(15;18)(q24;q21).

Abnormalities, Multiple↗