Ramos L.A.G.,Hospital Infantil del Estado de Sonora |
Rodriguez C.R.,Servicio de Neonatologia |
Ochoa F.F.,Servicio de Neonatologia |
Vite M.D.S.M.,Servicio de Neonatologia |
And 3 more authors.
Revista Mexicana de Pediatria | Year: 2011
We present the first case of aberrant right subclavian artery in interruption of the aortic arch that was diagnosed in the Children Hospital of the Sonora State in a newborn male whom had symptoms of distress respiratory, cyanosis and precordial murmur. Physical exam suggested Di George syndrome phenotypic characteristic and in his hospital stay had persistent hypocalcemia. Diagnosis of the interruption of the aortic arch type B was made by Echocardiography 2D and the other vascular anomaly associated, by computed tomographic angiography that permitted for identifying anatomic features from aberrant origin of the right subclavian artery leaving from interrupted distal aortic segment. We recommended to make this study as a complement for evaluation of this patients when is not possible to detect by Echocardiography and other associated vascular anomalies as in this case.
Putotto C.,University of Rome La Sapienza |
Unolt M.,University of Rome La Sapienza |
Caiaro A.,University of Rome La Sapienza |
Marino D.,University of Rome La Sapienza |
And 3 more authors.
Giornale Italiano di Cardiologia | Year: 2013
Are there gender differences in prevalence, surgical results and long-term survival of patients with congenital heart disease? Available literature data allow us to state what follows. At birth there is a mild but significant prevalence of congenital heart disease in females. The most severe congenital heart diseases are less frequent in girls, but when they are present in females, they are linked to a higher surgical mortality rate, due perhaps to lower weight at birth and to the prevalence of extracardiac malformations and/or of associated genetic syndromes. On the other hand, in adults, surgery for congenital heart disease is at higher risk in males, and so the longterm survival rate is higher in females. Particular psychological attitudes, a higher incidence of pulmonary hypertension, as well as specific problems linked to the reproductive function characterize congenital heart disease in adult women. The knowledge and analysis of these data are essential for a correct management of congenital heart disease in neonates, children and adults. © 2013 Il Pensiero Scientifico Editore.
Bocchinfuso G.,University of Rome Tor Vergata |
Carrani E.,Servizio Informatico |
Dentici M.L.,Ospedale Bambino Gesu |
Biamino E.,University of Turin |
And 9 more authors.
American Journal of Human Genetics | Year: 2012
Myhre syndrome is a developmental disorder characterized by reduced growth, generalized muscular hypertrophy, facial dysmorphism, deafness, cognitive deficits, joint stiffness, and skeletal anomalies. Here, by performing exome sequencing of a single affected individual and coupling the results to a hypothesis-driven filtering strategy, we establish that heterozygous mutations in SMAD4, which encodes for a transducer mediating transforming growth factor β and bone morphogenetic protein signaling branches, underlie this rare Mendelian trait. Two recurrent de novo SMAD4 mutations were identified in eight unrelated subjects. Both mutations were missense changes altering Ile500 within the evolutionary conserved MAD homology 2 domain, a well known mutational hot spot in malignancies. Structural analyses suggest that the substituted residues are likely to perturb the binding properties of the mutant protein to signaling partners. Although SMAD4 has been established as a tumor suppressor gene somatically mutated in pancreatic, gastrointestinal, and skin cancers, and germline loss-of-function lesions and deletions of this gene have been documented to cause disorders that predispose individuals to gastrointestinal cancer and vascular dysplasias, the present report identifies a previously unrecognized class of mutations in the gene with profound impact on development and growth. © 2012 The American Society of Human Genetics.
Caselli R.,CNR Institute of Molecular Genetics |
Ballarati L.,CNR Institute of Molecular Genetics |
Selicorni A.,Genetica Clinica |
Milani D.,Genetica Clinica |
And 5 more authors.
European Journal of Medical Genetics | Year: 2010
We describe a 6-year-old boy with a de novo 12 Mb interstitial duplication of chromosome 17q11.1q12, identified by oligo array-CGH. The patient shows psychomotor developmental and language delay, dolicocephaly, minor facial anomalies, hypotonia and renal megacalicosis. The duplication involves the neurofibromatosis type I (NF1) gene and overlaps with long-range unusual deletions of the NF1 region, extending over 17q12 region and associated with renal cysts and diabetes (RCDA). To our knowledge this is the first case of a patient carrying a large-sized duplication involving the 17q11.2q12 region. In the duplicated chromosomal segment there are about 130 annotated genes. Among them, several genes which have been already proposed as candidate for mental retardation (MR) in patients with partially overlapping deletions may be responsible for neurological impairment in our patient. In addition, other genes within the duplicated region are of interest for possible correlation with a few clinical features of the patient. © 2010.
Fogu G.,Genetica Clinica |
Fogu G.,University of Sassari |
Campus P.M.,University of Sassari |
Cambosu F.,Genetica Clinica |
And 8 more authors.
Cytogenetic and Genome Research | Year: 2012
Unbalanced whole-arm translocations (WATs) of the long arm of chromosome 1, resulting in complete trisomy 1q, are chromosomal abnormalities detectable in both solid tumors and hematologic neoplasms. Among the WATs of 1q to acrocentric chromosomes, a few patients with der(1;15) described as a dicentric chromosome have been reported so far, whereas cases of der(1;14) are much rarer. We report on a case of der(1;14) detected as single anomaly in a patient with myelodysplastic syndrome. The aim of our work was to investigate the breakpoints of the (1;14) translocation leading to the der(1;14). Fluorescence in situ hybridization (FISH) experiments have been performed on chromosome preparations from bone marrow aspirate, using specific centromeric probes of both chromosomes, as well as a probe mapping to 1q11 band. FISH results showed that in our patient the derivative chromosome was monocentric with a unique centromere derived from chromosome 14. The breakpoints of the translocation were located in the short arm of chromosome 14 and in the long arm of chromosome 1, between the alphoid D1Z5 and the satellite II domains. The 1q breakpoint was within the pericentromeric region of chromosome 1, which is notoriously an unstable chromosomal region, involved in different chromosomal rearrangements. Copyright © 2012 S. Karger AG, Basel.