High efficiency in the attribution of parental origin of non-disjunction in trisomy 21 by both cytogenetic and molecular polymorphisms
Articolo
Data di Pubblicazione:
1988
Citazione:
High efficiency in the attribution of parental origin of non-disjunction in trisomy 21 by both cytogenetic and molecular polymorphisms / F.D. Bricarelli, M. Pierluigi, L. Perroni, M. Grasso, A. Arslanian, N. Sacchi. - In: HUMAN GENETICS. - ISSN 0340-6717. - 79:2(1988 Jun), pp. 124-127.
Abstract:
The precise origin of the supernumerary chromosome can be defined in the majority of trisomy 21 cases. This is achieved by evaluating the chromosome 21 short arm polymorphism and analysing restriction fragment length polymorphisms (RFLPs) of multiple chromosome 21 loci. We report a study on 37 Italian families with Down's syndrome. In 35 cases (94.6%) both the parental and the meiotic stage of non-disjunction could be established. Knowledge of the origin of the extra chromosome 21 is a pre-requisite for investigations of genetic or environmental factors that may affect the meiotic process.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
pedigree ; karyotyping ; polymorphism, restriction fragment length ; meiosis ; polymorphism, genetic ; humans ; down syndrome ; nondisjunction, genetic ; male ; female
Elenco autori:
F.D. Bricarelli, M. Pierluigi, L. Perroni, M. Grasso, A. Arslanian, N. Sacchi
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