A5032089746- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Genetic Syndromes and Imprinting
- Congenital Anomalies and Fetal Surgery
- Chromosomal and Genetic Variations
- Connective tissue disorders research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Urological Disorders and Treatments
- Gestational Trophoblastic Disease Studies
- Hedgehog Signaling Pathway Studies
- Congenital Diaphragmatic Hernia Studies
- Tracheal and airway disorders
- Neurofibromatosis and Schwannoma Cases
- Genetics and Neurodevelopmental Disorders
- Craniofacial Disorders and Treatments
- RNA modifications and cancer
- Assisted Reproductive Technology and Twin Pregnancy
- Neurogenetic and Muscular Disorders Research
- Congenital heart defects research
- Sexual Differentiation and Disorders
- Ectopic Pregnancy Diagnosis and Management
- Cancer Genomics and Diagnostics
- Ubiquitin and proteasome pathways
- Fetal and Pediatric Neurological Disorders
- Congenital limb and hand anomalies
Philipps University of Marburg
2004-2024
Medical University of Vienna
2012-2024
Triangle
2020
Indianapolis Zoo
2020
Kentucky Science Center
2020
Universitätsklinikum Gießen und Marburg
2017
Justus-Liebig-Universität Gießen
2017
University of Lübeck
1982-2008
Friedrich-Alexander-Universität Erlangen-Nürnberg
2006
Radboud University Nijmegen
2005
Background: Although as many 10% of pancreatic cancer cases may have an inherited component, familial has not been linked to defects in any specific gene. Some studies shown that families with germline mutations the breast susceptibility gene BRCA2 increased risk and ovarian cancers, well a modestly cancer. To study these relationships more detail, we examined whether are associated Methods: We identified 26 European which at least two first-degree relatives had histologically confirmed...
Morphometric studies on male gonads were performed in 35 midterm fetuses aborted after prenatal diagnosis of a chromosome anomaly and 11 chromosomally normal controls. A significant reduction the number volume percentage premeiotic germ cells was observed abnormal cases. Germ cell depletion correlated with seventy chromosomal disease. It least expressed XYY condition. In trisomy 13 18, lead to values less than half or even fourth Complex anomalies XXY addition an autosomal disorder showed...
Abstract Fourteen (2.5 per cent) of 568 chromosome preparations after CVS showed discrepancies between the placental and fetal karyotype, mainly due to mosaicism. The presence a second cell line within placenta was confirmed in all but one case, which cytogenetic reinvestigations were carried out. Our clinical data indicate that severe developmental retardation newborn is not be expected if only carries chromosomally abnormal line.
Clinical and autopsy findings in two fetuses one newborn infant with Fraser syndrome are presented. Discussion focuses on the range of phenotypic expression within this autosomal-recessive disorder, resulting difficulties prenatal postnatal diagnosis, concept a neurocristopathy as underlying disturbance.
A family with three siblings showing different manifestations of Roberts syndrome or SC phocomelia is described. With regard to previously published cases familial and we conclude that these two syndromes are one the same genetic entity.
A fetus with tetrasomy for the short arm of chromosome 12 due to a de novo accessory isochromosome i(12p) is described. Involvement 12p in this aberration was suggested by banding analysis and substantiated detection marked increase LDH‐B fetal fibroblasts. The syndrome shown includes many minor anomalies described live‐born patients partial trisomy 12p, addition malformations including brachymelia, anal atresia double kidneys.
Fetal pathology aims to recognize syndromal patterns of anomalies for goal-directed mutation analyses, genetic counseling, and early prenatal diagnosis in consecutive pregnancies. Here, we report on five fetuses with Peters' plus syndrome (PPS) from two distinct families aborted after ultrasound hydrocephaly.We performed fetal autopsies molecular analyses.Among 44 prenatally diagnosed hydrocephaly, four 16 21 gestational weeks presented additional cleft lip/palate and/or agenesis the corpus...
Communicated by Riccardo FoddeThe 22q11.2 microdeletion syndrome is the most frequent in humans, yet its genetic basis complex and still not fully understood.Most patients harbor a 3-Mb deletion (typically deleted region [TDR]), but occasionally with atypical deletions, some of which do overlap each other and/or TDR, have been described.Microduplication TDR leads to phenotype similar, albeit identical, this region.Here we present child initially suspected having 22q11 syndrome, who addition...
Immunosuppressants are teratogenic in mice, rats, and rabbits cause prenatal growth restriction humans. As yet, there has been no proven teratogenicity humans.We present a chromosomally normal fetus with severe acrofacial dysostosis orofacial clefts. These were bilateral transverse oblique clefts defects of the midface. In addition, preaxial limb anomalies digitalization thumbs internal cardiovascular, gastrointestinal, urogenital malformations. The mother had treated high doses...
Abstract Prenatal morphology of Meckel's syndrome was studied in five fetuses different gestational age, that had been aborted because ultrasonography and elevated amniotic AFP‐levels indicated neural tube defect. Histologically, the enlarged polycystic kidneys were completely alike with respect to type involvement differed only severity changes. They could be identified as III cystic according classification Potter. Proliferation hepatic bile ducts slight dilatation pancreatic is already...
Six cases of partial trisomy lq, including four from the literature and our own two observations are summarized with respect to their clinical symptoms. Distinct similarities external aspect internal malformations allow delineation a syndrome lq.