Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Helenia C. Cuttaia"'
Autor:
Martina Busè, Helenia C. Cuttaia, Daniela Palazzo, Marcella V. Mazara, Salvatrice A. Lauricella, Michela Malacarne, Mauro Pierluigi, Simona Cavani, Maria Piccione
Publikováno v:
Italian Journal of Pediatrics, Vol 43, Iss 1, Pp 1-8 (2017)
Abstract Background Recurrent reciprocal 1q21.1 deletions and duplications have been associated with variable phenotypes. Phenotypic features described in association with 1q21.1 microdeletions include developmental delay, craniofacial dysmorphism an
Externí odkaz:
https://doaj.org/article/19625540c407409691464d02ba39f10f
Autor:
Salvatrice A. Lauricella, Mauro Pierluigi, Maria Piccione, Michela Malacarne, Marcella V. Mazara, Martina Busè, Simona Cavani, Helenia C. Cuttaia
Publikováno v:
Journal of Down Syndrome & Chromosome Abnormalities.
Mosaicism in association with derivative chromosomes is a well-known fact. Derivative chromosomes often tend to rearrange and/or be reduced in size during karyotype evolution, because of their instability. This can determine the disappearance of a de
Autor:
Salvatrice A. Lauricella, V. Consiglio, Helenia C. Cuttaia, Martina Busè, Valentina Cigna, Maria Piccione, Giovanna Schillaci
Publikováno v:
Gynecology & Obstetrics.
Tetrasomy Y is a very rare event, especially when it is present in a complete form. It is determined by complex rearrangement of the Y chromosome. Clinical features include psychomotor delay, skeletal abnormalities and facial dysmorphism. We report o