A5049819878- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- BRCA gene mutations in cancer
- Congenital heart defects research
- Chromosomal and Genetic Variations
- Hip and Femur Fractures
- Frailty in Older Adults
- Cardiac, Anesthesia and Surgical Outcomes
- Genomics and Rare Diseases
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Parvovirus B19 Infection Studies
- Coronary Artery Anomalies
- Genetic and rare skin diseases.
- Genetic Syndromes and Imprinting
- Ethics and Legal Issues in Pediatric Healthcare
- Congenital Heart Disease Studies
- Epilepsy research and treatment
- Assisted Reproductive Technology and Twin Pregnancy
- Genetics and Neurodevelopmental Disorders
- Biotechnology and Related Fields
- Childhood Cancer Survivors' Quality of Life
- Genetics, Bioinformatics, and Biomedical Research
- Hereditary Neurological Disorders
- Cardiovascular Function and Risk Factors
- Cystic Fibrosis Research Advances
Azienda Ospedaliero-Universitaria Careggi
2019-2021
University of Florence
2017-2020
Maria Eleonora Hospital
2014
Sacmi (Italy)
2005-2011
Medical Genetics Center
2004-2008
University of Bologna
1998-2001
Medica (Italy)
2000
University of Modena and Reggio Emilia
1988-1991
In this study, we used deletions at 22q13, which represent a substantial source of human pathology (Phelan/McDermid syndrome), as model for investigating the molecular mechanisms terminal that are currently poorly understood. We characterized level genomic rearrangement in 44 unrelated patients with 22q13 monosomy resulting from simple (72%), ring chromosomes (14%), and unbalanced translocations (7%). also discovered interstitial between 17–74 kb 9% patients. Haploinsufficiency SHANK3 gene,...
Pitt-Hopkins syndrome (PTHS) is characterized by severe intellectual disability, typical facial gestalt and additional features, such as breathing anomalies. Following the discovery of causative haploinsufficiency transcription factor 4 (TCF4), about 60 patients have been reported. We looked for TCF4 mutations in 63 with a suspected PTHS. Haploinsufficiency was identified 14 patients, consequence large 18q21.2 chromosome deletions involving (2 patients), gene (11 patients) t(14q;18q)...
Objective To contribute to the risk assessment of true fetal mosaicism after detection a mosaic chromosomal anomaly in chorionic villus samples (CVS) order enable more effective counseling and pregnancy management. Methods We retrospectively reviewed 7112 consecutive CVS analyzed on both direct preparations cultured cells. In 135 out 177 cases mosaicism, we performed cytogenetic follow-up determined frequency confined placental (CPM) according type distribution abnormality. Results True was...
Five unrelated patients with partial trisomy 7q are described. In two of them the duplicated region was 7q21----qter and in others 7q22----qter, 7q34----qter 7q35----qter, respectively. Clinical features were compared those reported published cases. Karyotype-phenotype correlations showed a relationship between size unbalanced survival, prenatal postnatal growth. contrast, same proportionality not demonstrated severity dysmorphic region. However, cleft palate seemed associated rather...
Molecular cytogenetics provides a visual, pictorial record of the tree life, and in this respect fusion origin human chromosome 2 is well-known paradigmatic example. Here we report on variant 6 which centromere jumped to 6p22.1. ChIP-chip experiments with antibodies against centromeric proteins CENP-A CENP-C exactly defined neocentromere as lying at chr6:26,407–26,491 kb. We investigated detail evolutionary history primates found that primate ancestor had homologous same marker order, but...
ObjectiveRisk stratification of cardiac surgery patients is usually based on the Society Thoracic Surgeons (STS) score, that has limited predictive value in older persons. We aimed assessing whether Short Physical Performance Battery (SPPB) improves, beyond STS assessment hospital prognosis undergoing elective surgery.MethodsAll aged 75+ years referred for to Careggi University Hospital (Florence, Italy) from April 2013 March 2017 were evaluated pre-operatively. Participants classified...
Abstract The first Italian national trial of external quality assessment in genetic testing was organised within the framework “Italian National Project for Standardisation and Quality Assurance Genetic Tests”. Sixty-eight Public Health Service laboratories volunteered trial, which involved molecular tests (cystic fibrosis, β-thalassaemia, familial adenomatous polyposis coli fragile-X syndrome) cytogenetic (prenatal postnatal, latter included cancer cytogenetics). response rate high (88.2%)....
A family is described in which two brothers have spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy. This report provides further evidence to support the previous suggestion that this triad of manifestations represents a specific single‐gene disorder, designated Boucher‐Neuhäuser syndrome. Analysis affected individuals shows neurological signs usually develop during adolescence or young adulthood (range: early childhood‐fourth decade) are slowly progressive...
Abstract A stillborn female with a “de novo” deletion of band 12p13 is described. Her main clinical manifestations are intrauterine growth retardation, unilateral cleft lip, protruding tongue, and small, low set, posteriorly angulated ears. Comparison this case 4 previous reported patients an isolated distal del(12p) fails to show significant common phenotypic characteristics.
At present, the majority of cardiac surgery interventions have been performed in elderly with successful short-term mortality and morbidity, however significant difficulties must to be underlined about our capacity predict long-term outcomes such as disability, worsening quality life loss functional capacity.The reason probably resides on inability capture preoperative frailty phenotype current risk scores consequently we are unable outline postoperative trajectory an important patients'...

 Background: Personal genomic tests (PGT) offered directly-to-consumers (DTC) for complex disease risk assessment have raised several concerns regarding their potential adverse impact. To mitigate worries continuing professional education has been advocated and the central gatekeeper role of family physicians highlighted. Nevertheless, to date, only few studies published on awareness, involvement attitudes primary healthcare providers DTC marketing PGT and, best our knowledge, none in...
Terminal osseous dysplasia with pigmentary defects is an extremely rare condition characterized by the triad of anomalies skin, skeletal abnormalities limbs and recurring digital fibromatosis childhood, considerable interfamilial intrafamilial variability expression. It has recently been added to small group X-linked dominant disorder prenatal male lethality on basis a four-generation pedigree in which only females were affected, progeny was decreased number spontaneous abortions increased....
The objective of this study is to evaluate genetic risks already present before pregnancy in a cohort pregnant women referred for prenatal counseling exclusively advanced maternal age (AMA).We retrospectively reviewed the records 1353 over 1 year (2010) pre-test with only indication AMA at three Italian Clinical Genetic Services.Of fulfilling inclusion criteria study, 87 (6.4%) had cumulatively 94 risk factors not previously identified (one factor 80 patients and two seven). Twenty-six...
<i>Background:</i> The Italian external quality assessment scheme in classical cytogenetics was started 2001 as an activity funded by the National Health System and coordinated Public Institute of Health. <i>Objectives:</i> aim our work is to present data from first 4 years activity, 2001–2004. <i>Methods:</i> public laboratories were enrolled on a voluntary basis, this nationwide program covered prenatal, postnatal oncological diagnosis. annual...
A novel multiple congenital anomalies syndrome has been recently identified in four patients carrying a 8q12 microduplication sharing the smallest region of overlap (SRO, size 1.6 Mb) including five genes CA8, ASPH, RAB2B, CLVS1 and CDH7. The phenotype is mainly characterized by neurodevelopmental delay, heart defects, facial features Type 1 Duane anomaly. Increasing dosage CDH7 was proposed to be responsible for recurrent pattern MCA.High resolution array-CGH analysis 4.2 Mb de novo...
The aims of this report are to describe the genetic plan for Emilia-Romagna, a region in Italy, and contribute international exchange information on developing applying policy frameworks provide high-quality comprehensive health care publicly funded systems. At present time there is no national medicine only two regions, Emilia-Romagna Liguria, have formally agreed strategic genetics. current provision services described focusing intra- inter-organizational linkages ensure system coordinated...