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- W2027830132 abstract "Parmi les nombreuses causes acquises ou constitutionnelles des chondrodysplasies ponctuées, la forme récessive liée à l’X est bien individualisée. Observation. – Un nouveau-né de sexe masculin présentait un syndrome dysmorphique avec une hypoplasie nasale marquée, une macroglossie et un cou court. Le diagnostic de chondrodysplasie ponctuée a été fait par la radiographie alors que le caryotype révélait l’existence d’un fragment de Y supplémentaire en Xpter, réalisant une disomie partielle Yp et une monosomie Xpter. La biologie moléculaire a mis en évidence une délétion de très petite taille, isolée, située entre le gène manquant aryl sulfatase E et le microsatellite DXS 1233, épargnant le gène MRX2 (gène non spécifique du retard mental) et a permis d’apporter des éléments rassurants quant au pronostic psychomoteur parfois compromis dans cette affection. Conclusion. – Devant un tableau de chondrodysplasie ponctuée avec dysmorphie, il est important d’effectuer un caryotype à la recherche d’un remaniement chromosomique sur l’X et une étude en biologie moléculaire. Among the many acquired or constitutional causes of chondrodysplasia punctata, the X-linked recessive form is well individualized. Case report. – A male newborn presented a dysmorphic syndrome with a marked nasal hypoplasia, a macroglossia and a short neck. The diagnosis of chondrodysplasia punctata was made by radiography whereas the chromosomal chart revealed the existence of an additional Y fragment in Xpter, effectuating a partial disomy Yp and a monosomy Xpter. Molecular biology showed a deletion of very small size, isolated and located between the gene missing aryl sulfatase E and the microsatellite DXS 1233, sping gene MRX2 (non-specific gene of mental retardation), and making it possible to give the reassuring elements as regards the psychomotor prognosis, sometimes compromised in this disorder. Conclusion. – In case of chondrodysplasia punctata with dysmorphy, it is important to execute a chromosomal chart in the search for a chromosomal reorganization on the X and a study in molecular biology." @default.
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- W2027830132 title "Chondrodysplasie ponctuée récessive liée à l’X.Étude cytogénétique et place de la biologie moléculaire" @default.
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- W2027830132 doi "https://doi.org/10.1016/s0929-693x(00)00181-0" @default.
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