PubMed Health⌕ Search

Biomedical subjects

R Witkowski

Publications and source records attributed to R Witkowski.

At least 37 records · Page 2Linked to original sources
PubMed1989

[Prenatal diagnosis and obstetric management in association of hydramnios and homozygosity].

The patient was referred to hospital in the 29th week of gestation owing to polyhydramnions. Ultrasonography revealed isolated left-sided hypertrophy (from foetal chest to the lower extremity) with subcutaneous lymph cysts. Amniocentesis for genetic examination revealed a chromosomal disorder showing homozygous t(13q, 14q) translocation. This extremely rare anomaly could be explained only and was finally proven by a father-daughter incest. The authors underline the necessity of karyotyping as well as the ultrasonic exclusion of foetal malformations in patients with polyhydramnions.

Abnormalities, Multiple↗
PubMed1986

Maternal serum alpha-fetoprotein screening for neural tube defects and other disorders using an ultramicro-ELISA. Collaborative study in Cuba and in the German Democratic Republic.

In Cuba and in the German Democratic Republic (GDR) a total of 24,412 pregnant women were tested for maternal serum alpha-fetoprotein (MSAFP) at the 16th to 20th week of gestation. An inexpensive and partly automated ultramicroliter enzyme immunoassay (ELISA) with final volumes of 10 microliter was used to analyze simultaneously 50 samples. The intraassay coefficient of variation (CV) of 5-8% and day/day CVs of 6-10.5% were obtained with a test frequency of 320 assays/day. A cut-off level of twice the median value (MoM) was chosen. An amniocentesis was done in a total of 0.5% (in the GDR) and 0.7% (in Cuba) of the screened women. The prevalence of open neural tube defects (ONTD) was calculated from the present study and was 1.43% in Cuba and 1.34% in the GDR. Through MSAFP screening 88.2% ONTD were detected. There was no therapeutic abortion of a normal fetus. The approximate cost for this program was about 2.36 marks-GDR per patient screened, or about 2,048 marks per ONTD detected.

Abortion, Spontaneous↗
PubMed1985

[Infant hypotonia, obesity, hypogenitalism and oligophrenia--new viewpoints on the etiology and symptoms of Prader-Willi syndrome].

We present four cases of Prader-Willi syndrome. Two of them have an abnormality of a chromosome 15, the other both show different chromosomal abnormalities. Translocations or deletions were found recently in the bands 15q11/12 in about 60% of the cases of Prader-Willi syndrome. The consequences for diagnosis, symptomatology and genetic counselling of the syndrome are discussed.

Child↗
PubMed1983

Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment.

Seven patients are described who have some or all of the symptoms of Prader-Willi syndrome. They were ascertained by varying criteria starting either from the clinical picture or from the identification of a chromosome abnormality involving the proximal portion of the long arm of chromosome 15. The chromosome abnormalities consisted of two balanced translocations (15;18 and 8;15), three unbalanced ones (15;18, 15;19, and 9;15), and one interstitial deletion of bands 15q11 and q12. The seventh case had an unidentified extra chromosome. These data and a review of the literature led to the conclusion that deficiency, transposition, and even duplication of the region(s) 15q11-q13 may all result in a syndrome which is identifiable with or similar to the Prader-Willi syndrome.

Adolescent↗
PubMed1980

The XX male -- report on a child and an adult.

Two XX males are described. The first patient with a typical phenotype of XX males has aplasia of the left kidney. The second one is a boy, who shows an additional chromosome translocation and also signs of the Prader-Willi syndrome.

Adult↗
PubMed1980

[Prenatal and postnatal diagnosis of triploidy in man (author's transl)].

Prenatal amniocentesis, chromosome analysis, as well as clinical and pathologicoanatomic approaches are some of the ways by which to diagnose triploidy. The methods are described against the background of triploidy (karyotype 69 XXX) in a bipara, 24 years of age. Prenatal examination of hydramnion, particularly in cases with concomitant gestosis, should include amnion cell culturing for early detection of triploidy. Postnatal diagnosis, in response to typical malformation of the foetus and placenta, is possible, provided that thought is given to that aspect.

Adult↗
PubMed1979

[Hypogonadism and intersexuality--genetic causes and cytogenetic diagnosis].

Hereditary types of hypogonadism and intersexuality are based on a chromosomal aberration, on a monogenetic defect of androgen synthesis, or on a androgen receptor. Cytogenetic diagnostic methods are suitable mainly for diagnosis of gonosomally caused syndromes. Monogenic defects have to be proved on the basis of the known karyotype by endocronologie techniques.

Androgens↗
PubMed1979

[Genetic counseling of parents with children with clefts].

The elucidation of the aetiology of the individual case has proved to be of fundamental importance to the counselling interview as well as to the assessment of the risk for further affected children. Up to now, a genetic cause in the form of chromosomal or gene mutations can be assumed only if the cleft is related to a distinct syndrome. An isolated cleft obviously owes its origin to a combination of genetic and extrinsic factors. Consequently, the assessment of the risk of repetition is to a great extent based on empirical values.

Adult↗
PubMed1978

Ring chromosome 3 in a retarded boy.

We present a boy with the karyotype 46,XY,r3 and a phenotype with psychomotor and growth retardation, craniofacial anomalies, syndactyly of the toes, and edema of the feet. The karyotypes and phenotypes of both parents are normal.

Child, Preschool↗