De novo balanced translocation: 46, XX, t(13;20)(q34;p 11).
The authors present a family in which the father has brachymetacarpy and brachymetatarsy and the mother has a 13/20 translocation. A baby was born with multiple malformations similar to the trisomy syndrome for the short arms of chromosome 20. The genetic consequences of the translocation are discussed.
D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D002903:Chromosomes, Human, 19-20; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy