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Biomedical subjects

S Stengel-Rutkowski

Publications and source records attributed to S Stengel-Rutkowski.

At least 55 records · Page 3Linked to original sources
PubMed1978

The dermatoglyphic pattern of the trisomy 10p syndrome.

Dermatoglyphic findings are reported for six members of a family in which two patients have partial trisomy for the short arm of chromosome 10(p13 leads to pter) and there are two unaffected carriers of the balanced translocation t(5;10)(p15;p13). The patterns are compared with those of nine other published cases of trisomy 10p. The following dermatoglyphic features appear to be characteristic for the trisomy 10p syndrome: frequent whorls and a high total ridge count on the finger prints and on the palms, C-lines terminating in space 11 (2nd interdigitum), B-lines terminating in space 9(3rd interdigitum), axial triradii t'', high atd angles, abnormal creases on the palms and soles, and general dysplasia of the papillary ridges.

Chromosomes, Human, 6-12 and X↗
PubMed1978

[Prenatal diagnosis in pregnancies at advanced maternal age (author's transl)].

Among 113 prenatal diagnoses in pregnancies at advanced maternal age (mothers older than 37 years) 7 aberrant fetal karyotypes were found (6.2%). Detailed reports of one case of trisomy 21, 18 and 13 each, as well as of XXY-, XYY- and XXX gonosomal constitution respectively are presented in the following. The frequency and severity of chromosome aberrations occurring in fetuses from elder women are discussed with respect to data from the literature. It seems that this group bears a higher risk for chromosomally abnormal offspring than has been suggested before.

Abnormalities, Multiple↗
PubMed1977

Risk for short arm 10 trisomy. A segregation analysis of eleven families with different translocations.

A segregation analysis has been carried out for 11 families with trisomy 10p caused by familial translocations involving a segment of the short arm of chromosome 10. The theoretical basis for the analysis is considered in some detail. No differences were found between the segregation pattern in the offspring of carrier mothers and that of carrier fathers. There was a high risk for offspring with trisomy 10p (22%). A phenotypically normal descendant also has a high risk of becoming a balanced translocation carrier (71%). This result does not deviate significantly from the theoretical value of 50%.

Chromosomes, Human, 6-12 and X↗
PubMed1977

New chromosomal dysmorphic syndromes. 2. Trisomy 10p.

This is the report of a family in which a balanced translocation in the mother t(5;10)(p15;p13) led to an unbalanced chromosomal constitution in two children. It was identified by G-banding analysis as trisomy of the distal portion of the short arm of chromosome 10 (p13 leads to pter). Comparison with 15 previous reports of trisomy 10p confirms the existence of a characteristic dysmorphic syndrome.

Abnormalities, Multiple↗
PubMed1977

New chromosomal malformation syndromes. I. Partial monosomy 8p. An attempt to establish a new chromosome deletion syndrome.

A mentally retarded 8-year-old boy with a de novo partial monosomy for the short arm of the No. 8 chromosome is described. Based on G-banding analysis, the patient's karyotype was identified in lymphocytes and skin fibroblasts as 46,XY,del(8) (pter leads to p21:). No chromosomal abnormalities were found in the phenotypically normal mother, father and sister of the propositus. Four further cases described in the literature indicate that partial monosomy of the short arm of the No. 8 chromosome might be associated with a syndrome characterized by the following stigmata: mental retardation, slow growth, high forehead, broad chest, wide-set nipples, pulmonary stenosis with atrial and/or ventricular septal defect, hypoplasia of the genitalia, dermatoglyphic stigmata.

Child↗
PubMed1976

[The chromosome bands. Significance for clinical and cytogenetic research (author's transl)].

The methods of performing chromosomal investigations have been fundamentally changed in the last few years through the discovery of differential staining methods. While only a rough classification of the chromosomes into single groups could be carried out earlier, it is now possible to identify every individual pair of chromosomes on the basis of a typical pattern of bands. By means of these banding techniques smaller chromosomal variations can be recognized which were overlooked earlier and which have led to the delineation of new chromosomal malformation syndromes. In the present work, the modern methods of chromosome analysis are reviewed. Examples from clinical diagnosis show the necessity of using these techniques.

Abnormalities, Multiple↗
PubMed1975

[Prenatal diagnosis of a case of metachromatic leucodystrophy (author's transl)].

Metachromatic leucodystrophy was diagnosed from cell-free amniotic fluid (marked deficiency of arylsulphatase A) in the 20th week of pregnancy of a woman whose two previous children also had the disease. The pregnancy was immediately terminated. Subsequent amniotic cell culture also revealed a very low arylsulphatase concentration corresponding to the values found in amniotic fluid. An about four-fold increase of metachromatic material was found in the formalin-fixed brain of the aborted fetus.

Abortion, Therapeutic↗
PubMed1975

[Prenatal diagnosis of Sandhoff's disease (GM2-gangliosidosis, type 2)].

The diagnosis of GM2-gangliosidosis type 2 (Sandhoff's disease) was made prenatally (23rd week of pregnancy) by amniocentsis. A sibling with "Tay-Sachs disease" had died shortly before. Severe deficiency of total beta-hexosaminidase was found in amniotic fluid and amnion-cell culture. After interruption of the pregnancy the enzyme defect was also found in the fetal brain tissue and the concentration of ganglioside GM2 was three times normal, confirming the diagnosis.

Amniocentesis↗
PubMed1975

[Chromosome studies on human fibroblast cultures following exposure to cyproheptadin].

Cyproheptadin was tested on chromosomes in fibroblast cultures of children for its possible mutagenic efficacy. Neither 24-hour exposure to Cyproheptadin at concentrations of 8-16 mg/l medium nor a chronic exposure for 8-11 weeks at a concentration of 8 mg/l caused any discernable chromosomal mutations. At concentrations between 8-16 mg/l reversible cytomorphological and cytochemical changes occured; 32 mg/l suppressed cell division and higher concentrations (64-128 mg/l) brought about irreversible changes leading to cell death. These reactions were rather in vitro cytotoxic effects of unspecific nature.

Cell Division↗
PubMed1975

Reproduction in a female patient with Down's syndrome. Case report of a 46, XY child showing slight phenotypical anomalies, born to a 47, XX, + 21 mother.

A non-mongoloid boy born to a mongoloid mother is described. He showed aplasia of the left 5th finger and some clinical and dermatoglyphic features frequently found in Down's syndrome. Chromosome analysis revealed few hyperdiploid but no G-trisomic cells. An undetected G-trisomy mosaic, or a mechanism of extrachromosomal inheritance, and an embryonic development in a pathological milieu are discussed.

Adult↗