Prenatal diagnosis of pericentric inversion in homologues of chromosome 9: A decision dilemma

Reuven Sharony*, Aliza Amiel, Reviva Einy, Moshe Fejgin

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Pericentric inversion of one chromosome 9 [inv(9)] is considered a polymorphic variation and is one of the most common forms of autosomal inversion diagnosed prenatally in amniocytes. Yet its clinical significance remains uncertain. Most publications suggest that this finding is insignificant. However, some articles report on abnormal ultrasonic findings in association, such as hydramnios, anhydramnios, hydroureter, hydronephrosis, encephalocele, and prune belly syndrome. Other reports suggest that inv(9) might be one of the etiologies of psychiatric disorders. The homozygote state, on the other hand, is rarely encountered. We report two cases of pericentric inversion of the two homologues of chromosome 9. Two similar cases were previously reported. One affected fetus was had intrauterine growth restriction and the other had Walker-Warburg syndrome as opposed to the normal outcome of our patients. Finally, a workup of this finding is suggested.

Original languageEnglish
Pages (from-to)137-140
Number of pages4
JournalAmerican Journal of Perinatology
Volume24
Issue number2
DOIs
StatePublished - Feb 2007

Keywords

  • Chromosome 9
  • Homologues
  • Pericentric inversion
  • Prenatal diagnosis

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