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M Prieur

Publications and source records attributed to M Prieur.

137 records · Page 8Linked to original sources
PubMedDate not supplied

[A preliminary study to assess the value of the DNA chips SpectralChip to detect subtle constitutional chromosome imbalances].

Comparative genomic hybridization on a microarray (microarray-CGH) allows to detect genomic chromosome imbalances. In order to assess its value to detect small chromosome imbalances observed in a clinical setting, using a DNA chip available commercially (Spectral Genomics, Houston, Texas, USA), we studied the DNA of 9 patients carrying a well characterized chromosome imbalance and the DNA of 11 patients where cytogenetic techniques such as high resolution banding karyotype, FISH using subtelomeric probes and comparative genomic hybridization on metaphase chromosomes conclude to a normal and/or balanced karyotype. A result was obtained for 19/20 patients. Failure of hybridization was observed for one patient. For all the other cases the sex of patients was correctly identified. Microarray-CGH was able to correctly diagnose the chromosome imbalance in 6/8 patients carrying such a defect i.e 9/11 imbalances (deletion or duplication) were detected. No chromosome imbalance was observed in 11 patients considered normal and/or balanced using cytogenetic techniques. Several clones were found to be polymorphic and required FISH studies to eliminate duplication or deletion. In conclusion, we think that this commercially available DNA chip might be useful to screen for chromosome imbalances. However, technical improvements are still necessary before using it in a clinical setting. Also, further studies are necessary to assess its sensitivity and specificity.

Chromosome Aberrations↗
PubMedDate not supplied

[Oral contraceptive and trisomy 21. A retrospective study of 730 cases (author's transl)].

A retrospective study of 730 cases of trisomy 21 and of 1 035 cases of abnormal children without a detectable chromosomal aberration, allows the study of the frequency of use of oral contraceptives by their mothers. The statistical analysis shows no notable differences for mothers 30 years old and younger. Among the mothers 30 to 38 years old, there is an excess of pill-taking by mothers of trisomy 21 children. For this second category of mothers (30 to 38 years) this excess is significant (a) when the delay between the cessation of pill-taking and the conception of the child is six months or less ; (b) when the duration of pill-taking has been longer than one year ; and (c), when those two factors are present simultaneously. Moreover, the frequency of males is significantly reduced in trisomy 21 children when their mother have taken the pill. As a whole, for the subsample of mothers 30 and older, a correlation is observed between the three factors analysed, pill-taking, sex ratio, and trisomy 21. In view of the fact that decrease of the sex ratio and the increase of the frequency of trisomy 21 both are correlated with maternal aging in the general population, it seems remarkable that a correlation between these two variables and the use of oral contraceptives is observed only when the women had already passed the first half of their reproduction period.

Abnormalities, Drug-Induced↗
PubMedDate not supplied

[Familial Miller-Dieker syndrome and (15;17) chromosome translocation].

Two siblings with familial lissencephaly presented with the clinical and neuropathological features of the Miller-Dieker syndrome. High resolution caryotype demonstrated a 46,XX,-17+der(17)t(15;17)pat translocation with partial deletion of the short arm of chromosome 17 in one patient and a balanced 46,XY,t(15;17)(q2600;p1300) translocation in the father. Review of the literature uncovered 14 additional patients with Miller-Dieker syndrome and partial deletion of the short arm of chromosome 17. A cytogenetic study should be done in all cases of lissencephaly for genetic counselling.

Brain↗