J Genet Med.  2010 Jun;7(1):78-81.

Repetitive Pregnancy Loss in inv(22)(p13q12) Carrier

Affiliations
  • 1Department of Laboratory Medicine, Keimyung University School of Medicine, Daegu, Korea. ksksmom@dsmc.or.kr
  • 2Department of Obstetrics and Gynecology, Keimyung University School of Medicine, Daegu, Korea.

Abstract

Pericentric inversion is not rare in humans and is usually benign. However, pericentric inversion can lead to production of an unbalanced recombinant and might be a cause of repetitive pregnancy loss. Pericentric inversion of chromosome 22 is rare and only a few cases have been reported. We report a case of inv(22)(p13q12) carrier who had history of repetitive pregnancy loss including three spontaneous abortions and one fetal hydrops in which the chromosomal complement was rec(22)dup(22q) inv(22)(p13q12)mat. The maternal inv(22) and fetal rec(22) were confirmed by fluorescence in situ hybridization using region-specific probes (TUPLE1 on 22q11.2 and ARSA on 22q13). Because the identification of inv(22) or rec(22) in conventional karyotyping might be easily overlooked, great attention and additional molecular tests are required for accurate diagnosis of inv(22) and rec(22).

Keyword

Recombinant; inv(2); Partial trisomy 22; Repetitive pregnancy loss
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