G. Soro
University of Sassari
12 Papers
57 Citations
G. Soro is an academic researcher from University of Sassari. The author has contributed to research in topics: Medicine & Trisomy. The author has an hindex of 4, co-authored 9 publications.
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Papers
Patau syndrome with long survival in a case of unusual mosaic trisomy 13
Giuseppa Fogu,Emanuela Maserati,F. Cambosu,Maria Antonietta Serafina Moro,Fausto Pier'Angelo Poddie,G. Soro,Pasquale Bandiera,Gigliola Serra,Gianni Tusacciu,Giuseppina Sanna,Vittorio Mazzarello,Andrea Montella +11 more
TL;DR: Cytogenetic findings of the chromosomal analyses on different tissues, including skin fibroblasts from differently pigmented areas, are reported, suggesting a sequence of rearrangements which beginning from an isochromosome (13q) could have led to the other two derivatives.
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Pure partial trisomy of 6p12.1-p22.1 secondary to a familial 12/6 insertion in two malformed babies.
Giuseppa Fogu,Pasquale Bandiera,F. Cambosu,Anna Rita Carta,Laura Pilo,Gigliola Serra,G. Soro,Massimo Tondi,Gianni Tusacciu,Andrea Montella +9 more
TL;DR: It is suggested that some of their phenotypic anomalies are due to the trisomy of this chromosomal region, and the possible role played by the TFAP2B (Transcription Factor AP2-beta) gene, which is one of the genes mapped on the duplicated segment.
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Prenatal diagnosis and molecular cytogenetic characterisation of a de novo 18p deletion.
Giuseppa Fogu,Giampiero Capobianco,F. Cambosu,Pasquale Bandiera,Alessio Pirino,Maria Antonietta Serafina Moro,Paola Maria Campus,G. Soro,M Dessole,Andrea Montella +9 more
TL;DR: Improved survival in pregnancy and pulmonary hypertension using a multiprofessional approach is described and a role for novel vasodilators is identified.
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Identification of a mutant allele of the androgen receptor gene in a family with androgen insensitivity syndrome: detection of carriers and prenatal diagnosis
Giuseppa Fogu,Veronica Bertini,Salvatore Dessole,Pasquale Bandiera,Paola Maria Campus,Giampiero Capobianco,Raimonda Sanna,G. Soro,Andrea Montella +8 more
TL;DR: The mutant allele by Polymerase Chain Reaction (PCR) amplification of the short tandem repeat (CAG)n, highly polymorphic in the population, is present in the first exon of the androgen receptor (AR) gene.
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Partial trisomy of the long arm of chromosome 1: prenatal diagnosis, clinical evaluation and cytogenetic findings. Case report and review of the literature.
F. Cambosu,Giampiero Capobianco,Giuseppa Fogu,Pasquale Bandiera,Alessio Pirino,Maria Antonietta Serafina Moro,Raimonda Sanna,G. Soro,M Dessole,Andrea Montella +9 more
TL;DR: Cerebral ventriculomegaly, present in the case, seemed to be a constant feature in partial 1q trisomies, so this cerebral malformation could be considered as the main echographic marker for this chromosomal imbalance and trisomy 1q should be added to the list of chromosomal abnormalities associated with vents.
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