Affiliation: Ospedale Maggiore
- Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibsFederica Natacci
Clinical Genetic Unit, Department of Obstetrics and Pediatrics, Fondazione Ospedale Maggiore Policlinico Mangiagalli e Regina Elena, Milano, Italy
Am J Med Genet A 146:784-6. 2008..Our family shows that a more precise definition of the recurrence risk is feasible using this approach, based on a single DNA test, which could be offered in selected cases...
- Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotypePalma Finelli
Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Cusano Milanino 20095, Italy
Mol Cytogenet 5:16. 2012..abstract:..
- Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case reportMaria Francesca Bedeschi
U O D Genetica Medica, Dipartimento Salute della donna del bambino del neonato, Fondazione IRCCS Policlinico, Mangiagalli e Regina Elena, Milan, Italy
Orphanet J Rare Dis 6:7. 2011....
- Clinical follow-up of young adults affected by Williams syndrome: experience of 45 Italian patientsMaria Francesca Bedeschi
UOD di Genetica Medica, Dipartimento Salute della Donna, del bambino, del neonato, Fondazione IRCCS Ca Granda, Ospedale Maggiore Policlinico, Milano, Italy
Am J Med Genet A 155:353-9. 2011..We offer some suggestions for clinical monitoring which we propose will be useful in the overall care of adults with WBS...
- Discordant prenatal phenotype and karyotype of monozygotic twins characterized by the unequal distribution of two cell lines investigated by different methods: a reviewBarbara Gentilin
Clinical Genetic Unit, Dipartimento Salute della Donna, del Bambino e del Neonato, Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy
Twin Res Hum Genet 11:352-6. 2008....
- Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 geneMaria Francesca Bedeschi
Clinical Genetics Unit, Fondazione IRCCS, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy
Am J Med Genet A 146:1718-24. 2008..This mutation was inherited from his healthy mother and was not present in any of the three maternal brothers. To our knowledge this is the first report of a clinical phenotype associated with duplication of Xq12q13...
- Norman-Roberts syndrome: characterization of the phenotype in early fetal lifeFederica Natacci
Medical Genetics Unit, Dipartimento dell Area Salute della Donna, del Bambino e del Neonato, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy
Prenat Diagn 27:568-72. 2007..The recurrence in two sibs might contribute to the hypothesis of a recessive condition...
- The introduction of QF-PCR in prenatal diagnosis of fetal aneuploidies: time for reconsiderationUmberto Nicolini
Department of Obstetrics and Gynaecology and Medical Genetics, Ospedale V Buzzi, University of Milano, Milano, Italy
Hum Reprod Update 10:541-8. 2004..Some of these anomalies might be acceptable, in view of their limited or uncertain clinical relevance, and decision analysis might, in the majority of cases, confine the full karyotype to selected women who have specific indications...
- Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlationDaniela Giardino
Cytogenetics and Molecular Genetics Laboratory, Auxological Institute, Milan, Italy
Am J Med Genet 111:319-23. 2002..We reviewed the previously reported cases in an attempt to establish genotype-phenotype correlations, which are particularly important when SMCs are identified in prenatal diagnosis...
- Acro-dermato-ungual-lacrimal-tooth-like syndrome: report of a family with variable expressionMaria Francesca Bedeschi
Medical Genetic Unit, IRCCS Foundation Policlinico, Mangiagalli and Regina Elena, Milan, Italy
Clin Dysmorphol 15:239-41. 2006..Although P63 gene analysis was negative, we think that both cases show clinical overlap with the acro-dermato-ungual-lacrimal-tooth syndrome and confirm the wide expression of this condition, even in the same family...