[X maternal mosaicism and genetic counseling].
Among number of women having consulted for repeated miscarriages about sixty have a gonosomic mosaicism involving chromosome X for which abnormal clones (monosomy and/or excess) are always the minority. A retrospective study of the obstetrical follow up these patients have shown that 23% of them will give birth to a child with a chromosomic abnormality (21 trisomy, 13 trisomy, 45,X, 45,X/46,X iso X (q), 48,XXXX, 49 XXXXXY, del 5 p-). The hypothesis of a tendency toward non-disjunction is pushing for an prenatal diagnosis for patients with X mosaicism. However one can question about the real meaning of this abnormality regarding to the fact that the patients referred are not representative of the general population. Should interchromosomic interaction be taken for responsible? Is the risk for having a child chromosomic abnormality, especially X aneuploidy the same than for the overall population. It certainly would be rewarding to look after these different hypothesis in a multicentric collaborative study.
Nivelon-Chevallier
A
A
Centre de Génétique, Hôpital d'Enfants du Bocage, Dijon.
Sidaner
I
I
Mugneret
F
F
Turc-Carel
C
C
D000026:Abortion, Habitual / Q000235:genetics; D000328:Adult; D000649:Amniocentesis; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D008423:Maternal Age; D009030:Mosaicism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012307:Risk Factors; D012729:Sex Chromosome Aberrations; D014314:Trisomy; D014960:X Chromosome
Mosaïques maternelles de l'X et conseil génétique.