Eduard Kocárek

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A child born with ambiguous genitalia (Prader III) was found to have a 45,X[92.2%]/46,X,psu dic(Y)(p12)[7.8%] karyotype in peripheral blood lymphocytes. The testosterone level was consistent with that of a normal male; however, gonadotropins were elevated. Ultrasound and endoscopy of the urogenital sinus revealed well-developed Müllerian structures. At 3.5(More)
DiGeorge anomaly/velocardiofacial syndrome (DG/VCFS) occurs with different deletion intervals on chromosomes 22q11, while the DiGeorge anomaly (with other findings) is seen in patients with deletions of 10p14. The clinical outcome with the common 22q11 deletion (90% of cases) is well known, but the outcome with the less frequent deletion types has not been(More)
BACKGROUND diGeorge syndrome is a relatively common congenital disorder with developmental defects, including hypoplasia or pathologic migration of the thymus, associated with deletion of contiguous genes on chromosome 22. We prospectively followed a cohort of children with confirmed 22q11.2 deletion. MATERIAL/METHODS One to six repeated examination were(More)
OBJECTIVES In contrast to most human autosomal genes which are expressed biallelically, the expression of imprinted genes depends on the parental origin of the allele. Prader-Willi syndrome is a neurobehavioral disorder in which the expression of active paternal alleles of imprinted genes from chromosomal region 15q11-q13 is abolished by deletions, maternal(More)
We describe a girl with neurofibromatosis type 1 (NF1), mild dysmorphic features, growth and mental retardation, autism, and mosaicism of ring chromosome 17 and chromosome 17 monosomy. The extent of genetic material deleted from the ring chromosome was determined using a combination of classical cytogenetics, fluorescence in situ hybridization (FISH) and(More)
Aberrations of the normal number and structure of chromosomes can cause mental, growth and developmental delay, defects of sexual development, congenital defects, abnormal facial features, deformation of extremities, defective intrauterine development, spontaneous miscarriages, and infertility. Expressive changes of the karyotype are used to be found in(More)
Small, usually supernumerary chromosomes, denoted as marker chromosomes or markers, can be represented by various phenotypic expression, that depends on their origin and extent. Our article presents results of molecular cytogenetic analysis (FISH) of 34 patients with identified marker chromosome. In 21 cases a marker derived from acrocentric chromosome was(More)
The paper describes automated segmentation and analysis of the microscopic images resulting from fluorescence in-situ hybridization (FISH) analysis. FISH is a popular molecular cytogenetic method. The output of a single FISH analysis is a set of several tens or hundreds microscopic images — a single evaluated sample is of roughly 20mm diameter. The goal of(More)
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