Monica Poscente

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Multiple osteochondromas (MO), also known as hereditary multiple exostoses (HME), is one of the most common hereditary musculoskeletal diseases in Caucasians (1/50,000) with wide clinical variability and genetic heterogeneity. Two genes have thus far been identified as causing the disease, namely EXT1 and EXT2. Various methods to detect mutations in the EXT(More)
We report on a newborn with severe psychomotor retardation, minor anomalies, congenital heart defects, thumb and urogenital abnormalities. Cytogenetic analysis showed a 4q24qter duplication, never described before, as the result of a de novo t(4;14). The extension of the duplicated 4q region was defined by FISH using YAC probes. The breakpoint was localized(More)
To contribute to the knowledge on tumorigenesis and the evolution of urothelial carcinoma of the ureter, we analyzed the clinical, histological, and cytogenetic aspects of a case. Primary cell cultures obtained from tumor specimens showed a trisomy of chromosome 20 where the c-src proto-oncogene, already described in literature as having an important role(More)
Technetium-99m hexamethylpropylene amine oxime (HMPAO) white blood cell scan (WBCS) requires separation and labelling of mixed leucocytes, which include particularly radiosensitive cells, lymphocytes. Lymphocytes labelled during the mixed leucocyte labelling procedure could represent a problem for patients owing to the possible induction of chromosomal(More)
Cryptorchidism and proximal hypospadia in a newborn are highly suspicious for an intersex disorder, and proper investigations should be planned immediately after birth. In some hypospadic patients, the presence of a palpable gonad in the scrotum may induce to assign the male sex, whereas the anatomy of internal and external genitalia could be extremely(More)
We describe a female child with complex cytogenetic anomalies consisting in partial trisomy of the short arm of chromosome 10, terminal deletion of the long arm of chromosome 2 and--at the same time--a mosaicism for X monosomy. To our knowledge, this is the first case reported in which 10p trisomy is associated to a 2qter deletion. Due to the scarcity of(More)
Duplications of MECP2 gene in males cause a syndrome characterized by distinctive clinical features, including severe to profound mental retardation, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity and recurrent infections. Patients with complex chromosome rearrangements, leading to(More)
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