نتایج جستجو برای: small supernumerary marker chromosome ssmc
تعداد نتایج: 1015567 فیلتر نتایج به سال:
INTRODUCTION Small supernumerary marker chromosomes are still a problem in cytogenetic diagnostic and genetic counseling. This holds especially true for the rare cases with multiple small supernumerary marker chromosomes. Most such cases are reported to be clinically severely affected due to the chromosomal imbalances induced by the presence of small supernumerary marker chromosomes. Here we re...
A dysmorphic patient was shown to carry a small supernumerary marker chromosome. Multicolor, centromere-multicolor and regular FISH experiments proved the marker to be an analphoid 12pter derived isochromosome. Microdissection of the marker followed by reverse painting and array CGH analysis showed that the isochromosome contains approximately 6 Mb of 12pter-12p13.31 derived sequence. This is o...
Most cases of Down syndrome (DS) result from a supernumerary marker chromosome 21; however there are rare cases in which DS is due to partial trisomy of chromosome 21, involving various segments of the chromosome. The characterization of DS that are due to partial trisomy 21 allows the phenotype to be correlated with the genotype. We present a case of a five-year-old male referred for cytogenet...
NEUROLOGICAL DISORDERS mental retardation mental retardation OCULAR DISORDERS choroidoretinal defects choroidal coloboma, retinal coloboma, macular coloboma, corneal defects not including dystrophy microphthalmos (anteposterior globe diameter less than 20 mm, in adult), anophthalmos eye, motility defects strabismus convergent, esotropia, misalignment of the visual axes of the eyes iris anomalie...
PURPOSE A supernumerary marker chromosome (SMC) was analysed after lymphocyte culture of a patient with oligoasthenoteratozoospermia (OAT) before ICSI treatment. MATERIAL AND METHODS By additional molecular cytogenetic investigations the marker could be identified as a heterochromatic derivate of chromosome 15 [karyotype: 47,XY,+der(15)]. RESULTS Sperm analyses by interphase FISH showed a n...
We report the case of a Moroccan boy with mental retardation, hyperactivity, epilepsy, developmental problems and behavioural disorders. Cytogenetic analysis showed the presence of a supernumerary marker chromosome. Molecular cytogenetics allowed us to determine the marker as an inverted duplication of chromosome 15. It is the first case of a Moroccan patient with tetrasomy 15q in which fluores...
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