We report that a 30-year-old woman with mental retardation was referred for prenatal diagnoses during pregnancy. An ultrasound scan showed that the heart structure and function of the fetus were normal. Cytogenetic analysis showed that the female karyotype was 47,XX, t(17; 22) (q21; q11), +21. The woman's husband had a normal male karyotype and was phenotypically normal. During this first pregn...

A 3-month old girl with monosomy for distal part of the short arm of chromosome 3 is described. Physical examination showed growth retardation, microcephaly, ptosis, micrognathia, low set ears, broad nasal bridge, Simian crease, long philtrum, thin lips and hypertelorism. The patient's clinical phenotype largely resembled that of 3p- syndrome but her karyotype was more complicated than just los...

The karyotype ontology describes the human chromosome complement as determined cytogenetically, and is designed as an initial step toward the goal of replacing the current system which is based on semantically meaningful strings. This ontology uses a novel, semi-programmatic methodology based around the tawny library to construct many classes rapidly. Here, we describe our use case, methodology...

A partial molar pregnancy of diploid karyotype coexisting with live term fetus is a rare entity Most instances of partial mole are triploid and only a few eases of diploid partial moles with term delivery have been reported. Here, we report a case of partial mole concomitant with a 37-week live fetus. Postpartum karyotype of the placenta and the fetus revealed both as 46XX. Histological examina...

Centrosomes play fundamental roles in mitotic spindle organisation, chromosome segregation and maintenance of genetic stability. Recently, we have demonstrated that the tyrosine kinase inhibitor imatinib induces centrosome and chromosome aberrations in vitro. Here, we comparatively investigated the effects of imatinib and the more potent successor drug nilotinib on centrosome, mitotic spindle a...

In this study, the karyotypic characteristics of Chondrostoma regium (Heckel, 1843) have been investigated. Fish samples were caught from Karasu River (Euphrates Basin) with fishing net. The live fish transported to laboratory and kept in aerated aquaria before analyses. karyotype analysis was performed kidney gill epithelium cells. It determined that C. had 2n=50 chromosomes. detail, formula a...

The molecular karyotype of Paranosema grylli Sokolova, Seleznev, Dolgikh et Issi, 1994, a monomorphic diplokaryotic microsporidium, comprises numerous bright and faint bands of nonstoichiometric staining intensity. Restriction analysis of chromosomal DNAs by "karyotype and restriction display" 2-D PFGE has demonstrated that the complexity of molecular karyotype of P. grylli is related to the pr...

Surface topography of human metaphase chromosomes following GTG banding was examined using high resolution atomic force microscopy (AFM). Although using a completely different imaging mechanism, which is based on the mechanical interaction of a probe tip with the chromosome, the observed banding pattern is comparable to results from light microscopy and a karyotype of the AFM imaged metaphase s...

turner syndrome is a sex-chromosome disorder occurring in one out of 2500 female births and characterized by growth retardation, gonadal dysgenesis and cardiovascular anomalies. the 45, xo karyotype is the most frequent type of this disease. herein, we report on a 6-year-old girl with turner syndrome and 45, xo karyotype presenting with short stature. she had dextrocardia and hiatal hernia. to ...