1. Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects
- Author
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Fabio Cardinale, Annarosa Soresina, Cristina Molinatto, Vera Gallo, Giuliana Giardino, Rita Consolini, Alessandro Plebani, Gioacchino Scarano, Baldassarre Martire, Emilia Cirillo, Pamela Puliafito, Maria Cristina Digilio, Caterina Cancrini, Claudio Pignata, Rosa Bacchetta, Maria Pia Cicalese, Chiara Azzari, Paolo Rossi, Silvana Martino, Cirillo, Emilia, Giardino, Giuliana, Gallo, Vera, Puliafito, P., Azzari, C., Bacchetta, R., Cardinale, F., Cicalese, M. P., Consolini, R., Martino, S., Martire, B., Molinatto, C., Plebani, A., Scarano, G., Soresina, A., Cancrini, C., Rossi, P., Digilio, M. C., Pignata, Claudio, Cirillo, E, Giardino, G, Gallo, V, Puliafito, P, Azzari, C, Bacchetta, R, Cardinale, F, Cicalese, Mp, Consolini, R, Martino, S, Martire, B, Molinatto, C, Plebani, A, Scarano, G, Soresina, A, Cancrini, C, Rossi, P, Digilio, Mc, and Pignata, C.
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Adult ,Male ,medicine.medical_specialty ,22q11.2 deletion syndrome, DiGeorge syndrome, Immunodeficiency, Phenotypic variability ,Chromosomes, Human, Pair 22 ,Pedigree chart ,Biology ,Cohort Studies ,Phenotypic variability ,DiGeorge syndrome ,medicine ,DiGeorge Syndrome ,Genetics ,Humans ,Immunodeficiency ,Genetics(clinical) ,Genetics (clinical) ,Settore MED/38 - Pediatria Generale e Specialistica ,Genetic heterogeneity ,Cytogenetics ,Microdeletion syndrome ,medicine.disease ,Human genetics ,Pedigree ,Phenotype ,del22 ,Di George ,familial ,22q11.2 deletion syndrome ,Speech delay ,Cohort ,Female ,medicine.symptom ,Chromosome Deletion ,Research Article - Abstract
Background 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1:4000 births. Familial autosomal dominant recurrence of the syndrome is detected in about 8-28% of the cases. Aim of this study is to evaluate the intergenerational and intrafamilial phenotypic variability in a cohort of familial cases carrying a 22q11.2 deletion. Methods Thirty-two 22q11.2DS subjects among 26 families were enrolled. Results Second generation subjects showed a significantly higher number of features than their transmitting parents (212 vs 129, P = 0.0015). Congenital heart defect, calcium-phosphorus metabolism abnormalities, developmental and speech delay were more represented in the second generation (P Conclusions Second generation subjects showed a more complex phenotype in comparison to those from the first generation. Both ascertainment bias related to patient selection or to the low rate of reproductive fitness of adults with a more severe phenotype, and several not well defined molecular mechanism, could explain intergenerational and intrafamilial phenotypic variability in this syndrome.
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