title: Prenatal cytogenetic assessment and inv(2)(p11.2q13).
abstract: 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.
authors.affiliation: Pathology, Montreal Children's Hospital, 2300 Tupper St, Montreal, QC H3H 1P3, Canada.
authors.forename: Meaghan
authors.initials: M
authors.lastname: Hysert
authors.forename: Hélène
authors.initials: H
authors.lastname: Bruyère
authors.forename: Gilbert B
authors.initials: GB
authors.lastname: Côté
authors.forename: Angelika J
authors.initials: AJ
authors.lastname: Dawson
authors.forename: Jo-Anna
authors.initials: JA
authors.lastname: Dolling
authors.forename: Raouf
authors.initials: R
authors.lastname: Fetni
authors.forename: Monica
authors.initials: M
authors.lastname: Hrynchak
authors.forename: Josée
authors.initials: J
authors.lastname: Lavoie
authors.forename: Jean
authors.initials: J
authors.lastname: McGowan-Jordan
authors.forename: Frédérique
authors.initials: F
authors.lastname: Tihy
authors.forename: Alessandra M V
authors.initials: AM
authors.lastname: Duncan
mesh_terms: 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