Parental investigation in a child with abnormal karyotype

Abstract

We present a parental investigation where the father and the mother are dubious, and the alleged child had a previous karyotype with a partial deletion at 13 chromosome (46XX del13). STR typing at D13S317 locus revealed homozygosity alleles in the three individuals involved in this study. The homozygosity of the alleged child at this locus was assumed as the result of a null allele, due to the partial deletion at 13 chromosome. This results showed a paternal inheritance of the chromosomal anomaly. In cases like this, the parental investigation with highly discriminating STR markers could be an additional contribution to the genetic diagnosis as well as an accurate genetic advice to the couple.