[Prenatal diagnoses in a family with pericentric inversion of chromosome no. 5].
A hereditary pericentric inversion of chromosome 5(p13 leads to q35) was detected in a family after the birth of a child with Cri-du-Chat-syndrome [46,XY,del(5)(p13)]. Prenatal diagnoses were carried out in three pregnancies in this family. The following results were found in the amniotic fluid cells: first pregnancy 46,XX; second 46,XY, inv(5)(p13 leads to q35) and the third 46,XX,der (5)(pter leads to q35::p13 leads to pter). The first two pregnancies ended with the birth of phenotypically normal children; the third one however was interrupted. Fetal kidney tissue cultures confirmed the result of the amniotic fluid cell culture.
D000328:Adult; D001921:Brain / Q000002:abnormalities; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D002905:Chromosomes, Human, 4-5; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D008168:Lung / Q000002:abnormalities; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
Pränatale Diagnosen bei einer Familie mit perizentrischer Inversion am Chromosom Nr.5.