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1

Recombination aneusomy of subtelomeric regions of chromosome 5, resulting from a large familial pericentric inversion inv(5)(p15.33q35.3)

100%
Bocian E., Suchenek K., Obersztyn E., Nowakowska B., Mazurczak T.
Journal of Applied Genetics
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2005
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vol. 46
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issue 1
109-114
EN
We present a family with three cases of recombination aneusomy rec(5)dup(5q) originating from a large parental pericentric inversion of chromosome 5. The proband ? a 6-year-old girl with mental retardation, speech delay, microcephaly, and slight facial dysmorphism ? was referred for subtelomere testing. FISH with a Multiprobe Chromoprobe T System (CytoCell) and with several BAC clones mapping to both subtelomere regions of chromosome 5, revealed a recombinant chromosome rec(5)dup(5q) originating from a paternal pericentric inversion inv(5)(p15.33q35.3). The same inversion was present in the proband's father's twin-brother and rec(5)dup(5q) was also identified in his two mentally retarded daughters. The distance of breakpoints from the telomere was: 0.234?1.4 Mb for 5p and 4.1?4.8 Mb for 5q. HR-CGH analysis confirmed the duplication of the 5q subtelomeric region but did not identify any concomitant deletion in the 5p subtelomere. Precise mapping of the aneusomic regions in the proband enabled mapping the cat cry and speech delay to 5p15.33, making the earlier localizations of these features more precise. Our family shows that the large pericentric inversion with both breakpoints at subtelomeric regions of chromosome 5 is associated with a high risk of rec(5)dup(5q) in the progeny.
2
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Molecular mechanisms of dendritic spine development and maintenance

100%
Sala C., Cambianica I., Rossi F.
Acta Neurobiologiae Experimentalis
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2008
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vol. 68
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issue 2
289-304
EN
The large majority of excitatory synapses are located on dendritic spines which are discrete membrane protrusions present on neuronal dendrites. Interestingly the highly heterogeneous morphology of dendritic spines is thought to be the morphological basis for synaptic plasticity associated to learning and memory formation. Indeed dendritic spines structure is regulated by molecular mechanisms that are fine tuned and adjusted according to level and direction of synaptic activity, development, specific brain region, and different experimental behavioral conditions. This supports the idea that reciprocal changes between the structure and function of spines impact both local and global integration of signals within dendrites. An increasing number of proteins have been found to be morphogens for dendritic spines and provided new insights into the molecular mechanisms regulating spine formation and morphology. Thus determining the mechanisms that regulate spine formation and morphology is essential for understanding the cellular changes that underlie learning and memory in normal and pathological conditions.
3

Relationship between molecular, cytogenetic and clinical parameters in 63 individuals with full mutation in FMR1 gene.

88%
Milewski M., Bal J., Bocian E., Obersztyn E., Mazurczak T.
Journal of Applied Genetics
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1996
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vol. 37
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issue 2
205-215
EN
Relationship between selected molecular, cytogenetic and clinical parameters was analysed in a group of 63 individuals (45 males and 18 females) with full fragile X mutation.Significant correlation between the size and somatic instability of fully mutated alleles in both males and females was found.Possible explanations of this result are discussed.With respect to the mutation size, an apparent difference was observed between males with different degree of mental retardation.No such difference appeared when affected and normal females with full mutation were compared.The proportion of mutated active X chromosome was significantly higher in mentally retarded females than those without any mantal impairment.
4

A new case of DOOR syndrome

88%
Wisniewska M., Siwinska Z., Felczak M., Wielkoszynski T., Krawczynski M., Latos-Bielenska A.
Journal of Applied Genetics
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2008
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vol. 49
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issue 1
101-103
EN
We present the case of a 9-year-old boy with DOOR syndrome recognized in the first year of his life because of a delayed development of speech. The diagnosis was based on characteristic abnormalities, including congenital deafness, nail and bone abnormalities, and mild mental retardation
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