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Prenatal cytogenetic assessment and inv(2)(p11.2q13)
Author(s) -
Hysert Meaghan,
Bruyère Hélène,
Côté Gilbert B.,
Dawson Angelika J.,
Dolling JoAnna,
Fetni Raouf,
Hrynchak Monica,
Lavoie Josée,
McGowanJordan Jean,
Tihy Frédérique,
Duncan Alessandra M. V.
Publication year - 2006
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1508
Subject(s) - chromosomal inversion , genetics , karyotype , biology , genetic counseling , chromosome , chromosomal translocation , breakpoint , cytogenetics , gene
Objectives To present a series of prenatally detected cases of recurrent pericentric inversions with euchromatic breakpoints and to review the literature to determine whether parental karyotyping is required for genetic counselling. Methods Cases of recurrent pericentric inversions with euchromatic breakpoints were collected from Canadian Cytogenetic Laboratories. Cases included inversions for chromosome 1(p13q21), chromosome 2(p11.2q13), chromosome 5(p13q13) and chromosome 10(p11.2q21.2). Results The incidence of de novo inv(2)(p11.2q13) was low, with one case among 91 inversions. There were no cases of de novo inv(10) (p11.2q21.2) among 17 reported and one case of de novo inv(5)(p13q13) among 21 reported. Conclusion Our study, and data from the literature, suggests that most cases of inv(2)(p11.2q13) have been stably inherited, that de novo cases of inv(2) are rare and that both inherited and de novo forms are without phenotypic or developmental consequences. We suggest that parental karyotyping for cases of inv(2) is not useful in counselling as it may generate unnecessary parental anxiety over a chromosomal finding that is likely innocuous. Copyright © 2006 John Wiley & Sons, Ltd.