Maria Clara Bonaglia
Affiliation: Bosisio Parini
- 20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: narrowing of the 9p duplication critical region to 6 MbMaria Clara Bonaglia
IRCCS Eugenio Medea, Bosisio Parini Lecco, Italy
Am J Med Genet 112:154-9. 2002..The breakpoint's location in this patient and previously reported cases suggest that the critical region for the 9p duplication syndrome lies within a 6-Mb portion of chromosome 9p22 between markers D9S267 and D9S1213...
- Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndromeM C Bonaglia
IRCCS E Medea, 23842 Bosisio Parini, Lecco, Italy
Am J Hum Genet 69:261-8. 2001..ProSAP2 is a good candidate for this syndrome, because it is preferentially expressed in the cerebral cortex and the cerebellum and encodes a scaffold protein involved in the postsynaptic density of excitatory synapses...
- A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotypeMaria Clara Bonaglia
IRCCS Eugenio Medea, Bosisio Parini, Italy
Eur J Hum Genet 13:586-91. 2005..This paper confirms that small subtelomeric de novo duplications may be responsible for mental retardation, facial dysmorphisms and/or congenital malformations, although their presence may be overlooked by FISH analysis...
- Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotypeMaria Clara Bonaglia
Scientific Institute E Medea, Bosisio Parini, Lecco, Italy
Eur J Hum Genet 16:1443-9. 2008..A possible involvement of the GRIK2 gene in autistic-like behaviour, of POPDC3 in heart development, and of MCHR2 in the control of feeding behaviour and energy metabolism is also hypothesized...
- A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplicationsMaria Clara Bonaglia
Scientific Institute Eugenio Medea, Bosisio Parini, Lecco, Italy
Eur J Hum Genet 17:179-86. 2009..The phenotypic effects of the trisomy and of the terminal 2p deletion are discussed...
- Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndromeMaria Clara Bonaglia
Cytogenetics Laboratory, Scientific Institute E Medea, Bosisio Parini, Italy
PLoS Genet 7:e1002173. 2011....
- Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variantMaria Clara Bonaglia
IRCCS Eugenio Medea, Via Don Luigi Monza 20, 23842 Bosisio Parini, Lecco, Italy
Eur J Med Genet 51:148-55. 2008..This is not suggestive of a trisomy but rather of CNV regions. This type of rearrangement could define a new class of polymorphic variants, i.e. positional variants, as observed for pericentromeric heterochromatin...
- Subtelomeric trisomy 21q: a new benign chromosomal variantMaria Clara Bonaglia
IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy
Eur J Med Genet 50:54-9. 2007..This report shows that new, previously unknown, benign subtelomeric variants may complicate the correct clinical diagnosis...
- Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2Roberto Giorda
E Medea Scientific Institute, Bosisio Parini, Lecco, Italy
Hum Mutat 28:459-68. 2007..Our study demonstrates that nonallelic homologous recombination involving multiple LCRs can generate more complex rearrangements and cause a greater variety of genomic diseases...
- Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangementsSilvana Beri
Molecular Biology Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy
Eur J Hum Genet 21:757-61. 2013..Genetic testing for VIPR2-LCR-associated inversions should be performed on available cohorts of psychiatric patients to evaluate their potential pathogenic role...
- DNA methylation regulates tissue-specific expression of Shank3Silvana Beri
E Medea Scientific Institute, Bosisio Parini, LC, Italy
J Neurochem 101:1380-91. 2007..Altogether, these data suggest the existence of a specific epigenetic control mechanism regulating SHANK3, but not SHANK1 and SHANK2, expression...
- Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversionMaria Clara Bonaglia
Eugenio Medea Scientific Institute, Bosisio Parini, Lecco, Italy
Eur J Hum Genet 17:426-33. 2009..As maternal UPD 22 has not been generally associated with any defects and as the size of the deletion is very similar in the two cases, phenotype severity is likely to depend entirely on the degree of mosaicism in each individual...
- 8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3Anna Baroncini
Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Via Don Luigi Monza, 20, 23842 Bosisio Parini LC, Italy
Mol Cytogenet 6:49. 2013..The phenotype is mainly characterized by neurodevelopmental delay, heart defects, facial features and Type 1 Duane anomaly. Increasing dosage of CDH7 was proposed to be responsible for the recurrent pattern of MCA...
- Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletionIsabella Fanizza
Child Psychopathology Unit, Scientific Institute, IRCCS Eugenio Medea, Ostuni, Brindisi, Italy
Eur J Med Genet 57:334-8. 2014..These data reinforce the hypothesis that multiple haploinsufficient genes and age-dependent observation may concur to generate the variable phenotype associated with 12p13.33 deletion...
- Agenesis of the corpus callosum: clinical and genetic study in 63 young patientsMaria Francesca Bedeschi
IRCCS E Medea, Bosisio Parini Lecco, Italy
Pediatr Neurol 34:186-93. 2006....
- Reciprocal translocations: a trap for cytogenetists?Roberto Ciccone
Biologia Generale e Genetica Medica, Universita di Pavia, Pavia, Italy
Hum Genet 117:571-82. 2005..This study, while confirming previous data showing unexpected complexity in translocations, further underscores the need for molecular investigations before taking for granted an apparently simple cytogenetic interpretation...
- Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsyTiziano Pramparo
Biologia Generale e Genetica Medica, University of Pavia, Pavia, Italy
Hum Genet 118:76-81. 2005..We hypothesize a loss-of-function mutation of the AF9/MLLT3 gene, and a possible role for the FAT gene on chromosome 4, in the genesis of the proband's severe neurological phenotype...