Prenatal cytogenetic assessment and inv(2)(p11.2q13).
OBJECTIVE
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.


CONCLUSIONS
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.
Hysert
Meaghan
M
Pathology, Montreal Children's Hospital, 2300 Tupper St, Montreal, QC H3H 1P3, Canada.
Bruyère
Hélène
H
Côté
Gilbert B
GB
Dawson
Angelika J
AJ
Dolling
Jo-Anna
JA
Fetni
Raouf
R
Hrynchak
Monica
M
Lavoie
Josée
J
McGowan-Jordan
Jean
J
Tihy
Frédérique
F
Duncan
Alessandra M V
AM
D025063:Chromosome Disorders / Q000175:diagnosis*; D007446:Chromosome Inversion / Q000235:genetics*; D002879:Chromosomes, Human, Pair 10; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5; D005220:Fathers; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007621:Karyotyping; D009035:Mothers; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012306:Risk