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A balanced complex chromosomal rearrangement (BCCR) with phenotypic effect
Author(s) -
Porto G. Del,
Grammatico P.,
Sanctis S. De,
Esposito M.,
Rosa C. Di,
Romano C.
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03068.x
Subject(s) - chromosomal rearrangement , phenotype , genetics , biology , congenital malformations , computational biology , karyotype , chromosome , pregnancy , gene
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.