[Prenatal detection of crying cat syndrome due to balanced translocation in one parent].
Prenatal detection of "Cri du chat" syndrome, as the consequence of balanced translocation 46,XY,t (5, 15) (p 13, p11) of the father, is described. A phenotipically normal child, with the same type of translocation possesed by his father was born in this family, as well as a child with "Cri du chat" syndrome. Four pregnancies were termed by spontaneous abortion. In the seventh pregnancy amniocenthesis was performed. On the basis of cell culture of amniotic fluid the diagnosis of "Cri du chat" syndrome was established. The diagnosis was confirmed by culture of peripheral blood of prematurely born foetus. Tissue cultures of some fetal organs were performed in order to find the origin of amniotic cells whose culture served for screening cytogenetic analysis.
D000649:Amniocentesis; D002869:Chromosome Aberrations; D003410:Cri-du-Chat Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic
Découverte prénatale d'un syndrome du "cri du chat" conséquence d'une translocation balancée chez un des parents