[Anomalies of the portal and umbilical veins].
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Abnormalities, Multiple↗
Biomedical subjects
H Rehder
Publications and source records attributed to H Rehder.
[Double aortic arch with bilateral persistent ductus arteriosus. Observation of a hitherto hypothetical form of a complete vascular ring formation].
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Abnormalities, Multiple↗
Prenatal diagnosis of a 46,XX/47,XX, + 12 mosaic.
A case of true mosaicism 46,XX/47,XX,+ 12 was diagnosed prenatally. The pregnancy was terminated in the 21st week of gestation and the aberrant cell line was rediscovered in cultured fetal tissue. However, a detailed examination of the fetus did not disclose any significant physical malformation.
Adult↗
[A new punch technique of cartilage-bone tissue for morphological studies in orthopedics].
A new technique is presented for the analysis of tissues which allows an exact, detailed comparison of light and electron microscopy. For this purpose, the previous techniques required the cutting of tissue pieces from the original tissue compound and the preparation of drawings as a rough localisation of the tissue pieces removed for analysis. Due to the processes of cutting and drawing, only an approximate localisation of the tissue investigated by electron microscopy was practicable. Specifically, the exact analysis of fetal cartilage-bone-tissue was mostly not possible due to the complicate arrangement of both tissue components. Therefore, the assessment of electron microscopic analyses was severely limited. The new technique, presented in this study, is characterised by a removal of punches 1 mm in diameter from the original tissue for electron microscopy. The remaining tissue with its exact defined punch-punctures is prepared for standard histology. Thus, the specific advantage of this new method is the precise attribution of the punched tissue to the original tissue group. Human fetal cartilage-bone-tissue has been used to demonstrate this punch-technique and the specific light- and electron microscopic preparations.
Bone and Bones↗
Prenatal diagnosis and fetopathological findings in a fetus with ring chromosome 18.
We report on a fetus with ring chromosome 18 and monosomy 18 mosaicism [mos 45,XX,-18/46,XX,r(18)] detected in cultured amniotic fluid cells at 15 weeks' gestation. Chromosome analysis of fetal blood, cultured chorionic villi and fetal fibroblasts confirmed the aberrant karyotype. The aberrant chromosome complement could not be detected in a short-term culture of chorionic villi (46,XX in 21 metaphases). These findings suggest that the aberrant karyotype was a postzygotic event. Fetal ultrasound was normal and the parents decided to terminate the pregnancy at 21 weeks' gestation. Autopsy revealed multiple abnormalities including facial dysmorphy, partial agenesis of the corpus callosum and an interatrial septal defect.
Adult↗
Duplication dup(1)(q32q44) detected by comparative genomic hybridization (CGH): further delineation of trisomies 1q.
Partial trisomy 1q is rare and mostly the result of an abnormal segregation of parental translocation chromosomes and their homologues. Only 31 cases have been described with pure partial trisomy 1q. In the fetus presented, chromosome analysis after amniocentesis had shown an unbalanced male karyotype with an aberrant chromosome 1. A de novo terminal duplication of the long arm was suspected but could not be verified by FISH in 1994. Five years after fetal death, retrospective identification of the additional material in 1q could finally be achieved by comparative genomic hybridization (CGH) using DNA extracted from formalin-fixed and paraffin-embedded fetal tissues. A direct duplication dir dup (1)(pter-->q44::q32.1-->qter) was found. Only 6 other individuals with duplication of this segment have been described so far. Comparative delineation of a dup1q phenotype with regard to size and origin of the dup (1q) segment evidenced that large duplications as well as proximal and interstitial duplications coincide with more severe visceral malformations, severe mental retar- dation and a short life span. Terminal duplications (1q32-->qter) concur with less severe malformations and longer periods of survival, but marked mental retardation. With small terminal duplications (1q42-->qter) dysmorphisms are usually mild and intellectual performance is mostly in the normal range.
Adult↗
[Possibilities for false-negative findings in trisomy 21 screening with FISH].
In approximately 5% of individuals with Down syndrome aneuploidy results from a chromosomal rearrangement. FISH analysis on chromosome metaphases and interphase nuclei of 5 individuals with Down syndrome carrying different types of chromosome 21 translocations demonstrated the diagnostic efficiency of this method. By use of different commercially available chromosome 21 specific probes we were able to show that only the cosmid probe specific for the Down syndrome critical region (DCR) in 22qll gave reliable results for interphase analysis of trisomy 21, while the use of chromosome 21 centromere- or of painting probes carry a high risk of a false-negative diagnosis in translocation trisomy 21.
Aneuploidy↗