AI Article Synopsis

  • The study focuses on three different families with a pericentric inversion of chromosome 9, affecting both females and other family members.
  • Out of 16 family members, 9 were identified as heterozygous carriers of the same chromosomal rearrangement, indicating a genetic link.
  • The authors highlight that this chromosomal anomaly occurs in about 1% of cases in their lab and briefly outline its clinical and cytogenetic implications.

Article Abstract

The authors describe three unrelated families who had a pericentric inversion of chromosome 9. Three female patients and 9 out of 16 members of their families were heterozygous carriers of the same chromosomal recombination. This anomaly has been found with a frequency of about 1% in our laboratory. The different clinical and cytogenetic implications are briefly discussed.

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