Is classic pericentric inversion of chromosome 2 inv(2)(p11q13) associated with an increased risk of unbalanced chromosomes?
OBJECTIVE
To study pericentric inversion segregation and interchromosomal effect on sperm for men heterozygous for inv(2)(p11q13), to assess the risk of miscarriage.


METHODS
Case report.


METHODS
Department of reproductive biology, cytogenetics, gynecology, and obstetrics.


METHODS
Seven patients heterozygous for inv(2)(p11q13) and five patients with normal karyotype with experience of recurrent spontaneous miscarriage.


METHODS
Fluorescence in situ hybridization on sperm with 2 p and 2q subtelomeric probes to screen for inversion segregation, and X, Y, and 18 centromeric probes to study interchromosomal effects. One thousand sperm were analyzed per experiment and per patient.


METHODS
Rate of unbalanced chromosomes and aneuploid sperm.


RESULTS
The inv(2)(p11q13) patients showed a 0.3% rate of sperm with unbalanced chromosomes. For interchromosomal effects, a 0.6% aneuploid sperm rate was observed for patients heterozygous for inv(2)(p11q13). This is similar to the 0.5% rate observed for control patients.


CONCLUSIONS
Inv(2)(p11q13) seems not to increase miscarriage for couples with men heterozygous for this inversion.
Ferfouri
Fatma
F
Department of Reproductive Biology, Cytogenetics, Gynecology, and Obstetrics, Centre Hospitalier Poissy Saint Germain, Poissy, France; EA 2493, UVSQ, Versailles, France.
Clement
Patrice
P
Laboratoire Clement, Le Blanc-Mesnil, France.
Gomes
Denise Molina
DM
Department of Reproductive Biology, Cytogenetics, Gynecology, and Obstetrics, Centre Hospitalier Poissy Saint Germain, Poissy, France; EA 2493, UVSQ, Versailles, France.
Minz
Marie
M
Laboratoire Clement, Le Blanc-Mesnil, France.
Amar
Edouard
E
American Hospital of Paris, Neuilly sur Seine, France.
Selva
Jacqueline
J
Department of Reproductive Biology, Cytogenetics, Gynecology, and Obstetrics, Centre Hospitalier Poissy Saint Germain, Poissy, France; EA 2493, UVSQ, Versailles, France.
Vialard
François
F
Department of Reproductive Biology, Cytogenetics, Gynecology, and Obstetrics, Centre Hospitalier Poissy Saint Germain, Poissy, France; EA 2493, UVSQ, Versailles, France. Electronic address: fvialard@hotmail.com.
D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D016022:Case-Control Studies; D002503:Centromere / Q000235:genetics; D025063:Chromosome Disorders / Q000209:etiology* / Q000235:genetics; D007446:Chromosome Inversion / Q000235:genetics; D002889:Chromosomes, Human, Pair 2; D020732:Cytogenetic Analysis; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D011247:Pregnancy; D012306:Risk; D055101:Semen Analysis / Q000379:methods