Annales de genetique · 2003
"Cri-du-chat" syndrome in a patient born to a mother with a paracentric inversion of chromosome 5q.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Bourthoumieu Sylvie, Esclaire Françoise, Terro Faraj, Baclet Marie Claire, Bedu Antoine, Dufetelle Brigitte, Gilbert Brigitte, Barthe Dominique, Yardin Catherine
Аннотация
We report the case of a female child presented at birth with hypotonia, growth retardation and respiratory distress. Chromosome study from peripheral blood showed a 46,XX,del(5)(p14pter) karyotype. Parental chromosome studies revealed that the mother carried an apparently balanced paracentric inversion of long arms of one chromosome 5, giving the karyotype 46,XX,inv(5)(q12q32), whereas paternal karyotype was normal. The maternal abnormality was confirmed by fluorescence in situ hybridization (FISH) and was not present in the daughter's metaphases. Microsatellite analysis in the proposita and her parents permitted us to conclude that the deleted chromosome 5 was paternal in origin, as usually described. Therefore, as might have been expected, maternal paracentric inversion of chromosome 5q and "cri-du-chat syndrome" presented by the daughter were not related.