[Prenatal diagnosis of the cri-du-chat syndrome in the case of balanced 5p--; 18p+ translocation in the mother].
The case studied is taken to emphasize the high risk of anomalous progeny being delivered from couples, who are the balanced translocation carriers. The "cri du chat" syndrome was diagnosed in a woman carrier of the balanced reciprocal translocation t(5, 18) (5p13; 18p11) during two successive pregnancies: the diagnosis was postnatal in the first pregnancy, and prenatal in the second. The prenatal diagnosis of the 5p--syndrome was made in amniotic fluid cell culture and verified in fetal skin culture obtained through fetal biopsy. A wider network of prenatal diagnosis services, primarily for couples carrying balanced chromosome rearrangements, could greatly contribute to the task of preventing severe hereditary diseases.
D000028:Abortion, Induced; D000328:Adult; D000649:Amniocentesis; D002902:Chromosomes, Human, 16-18; D002905:Chromosomes, Human, 4-5; D003410:Cri-du-Chat Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014178:Translocation, Genetic
Prenatal'naia diagnostika sindroma "koshachiĭ krik" pri sbalansirovannoĭ translokatsii 5p--; 18p+ u materi.