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Your search keyword '"Romano C"' showing total 11 results
Start Over Author "Romano C" Journal clinical genetics
11 results on '"Romano C"'

8. Incidence of classic PKU in Italy estimated from consanguineous marriages and from neonatal

Author

ROMEO, G., MENOZZI, P., FERLINI, A., PROSPERI, L., CERONE, R., SCALISI, S., ROMANO, C., ANTONOZZI, I., RIVA, E., SERENI, L. PICENI, ZAMMARCI, E., LENZI, G., SARTORIO, R., ANDRIA, G., CIONI, M., FOIS, A., BURRONI, M., BURLINA, A. B., and CARNEVALE, F.

Abstract

As already described for cystic fibrosis and Friedreich ataxia, the incidence of PKU in Italy has been estimated by determining the increase of consanguineous marriages among 178 couples of PKU parents over the frequencies carefully established for the same marriages in the general Italian population for each of the 95 provinces during a 55‐year period. The incidence estimated (between 1/15595 and 1/17815 according to two different formulas) is not very different from the incidence derived from screening programs (almost 1/12000). This indicates that the former method can be applied in Italy to the study of the incidence of other autosomal recessive disorders.

Published
1983
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10. Poland sequence in two siblings suggesting an autosomal inheritance transmission.

Author

Cohen A, Zecca S, Dassori A, Pelegrini M, Parodi L, and Romano C

Subjects
Child, Female, Humans, Male, Models, Genetic, Nuclear Family, Pectoralis Muscles pathology, Syndrome, Arm abnormalities, Pectoralis Muscles abnormalities
Abstract

We report on Poland sequence observed in two siblings (a girl and a boy) in the same family. This suggests an inheritance pattern consistent with an autosomal recessive or dominant trait transmission with reduced penetrance.

Published
1996
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11. A balanced complex chromosomal rearrangement (BCCR) with phenotypic effect.

Author

Del Porto G, Grammatico P, De Sanctis S, Esposito M, Di Rosa C, and Romano C

Subjects
Adult, Chromosome Aberrations pathology, Chromosome Disorders, Chromosomes, Human, Pair 12, Chromosomes, Human, Pair 2, Chromosomes, Human, Pair 3, Chromosomes, Human, Pair 4, Chromosomes, Human, Pair 6, Humans, Karyotyping, Male, Phenotype, Translocation, Genetic, Abnormalities, Multiple genetics, Chromosome Aberrations genetics
Abstract

The authors report on a case of balanced complex chromosomal rearrangement (BCCR) with phenotypic effect, describe the dysmorphisms and malformations observed, and discuss the various pathogenetic mechanisms. On the basis of these considerations, they underline the need for careful reporting of examined cases, distinguishing the characteristic signs from dysmorphisms that are described in several other chromosomal aberrations as well. Finally, they stress the importance of a more precise description of BCCRs for the purpose, among others, of a correct formulation of reproductive risk.

Published
1991
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