Familial translocation, t(2;5) (p23; g31).
A reciprocal translocation, t(2;5) (p23; q31) was found in healthy individuals through two generations of a family. The balanced aberration resulted in a derivate chromosome 2 in two malformed offspring in the third generation. The family was ascertained through the two unbalanced carriers whose phenotype abnormalities resembled those of two other offspring who died prior to the cytogenetic examination.
D000328:Adult; D002648:Child; D002869:Chromosome Aberrations; D002900:Chromosomes, Human, 1-3; D002905:Chromosomes, Human, 4-5; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000235:genetics; D010375:Pedigree; D014178:Translocation, Genetic