"Cri-du-chat" syndrome in a patient born to a mother with a paracentric inversion of chromosome 5q.
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.
Bourthoumieu
Sylvie
S
Faculté de Médecine, Laboratoire d'Histologie et de Cytogénétique, 2, rue du Dr Marcland, 87025 Limoges, France.
Esclaire
Françoise
F
Terro
Faraj
F
Baclet
Marie Claire
MC
Bedu
Antoine
A
Dufetelle
Brigitte
B
Gilbert
Brigitte
B
Barthe
Dominique
D
Yardin
Catherine
C
D000328:Adult; D007446:Chromosome Inversion; D002895:Chromosomes, Human, Pair 5; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D010375:Pedigree