Pericentric inversion of chromosome 16 in a large kindred: Spectrum of morbidity and mortality in offspring

✍ Scribed by Bianchi, Diana W. ;Nicholls, Robert D. ;Russell, Kathryn A. ;Miller, Wayne A. ;Ellin, Marvin ;Lage, Janice M.

• Book ID: 102700906
• Publisher: John Wiley and Sons
• Year: 1992
• Tongue: English
• Weight: 511 KB
• Volume: 43
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320430507

✦ Synopsis

Constitutional pericentric inversions of chromosome 16 are rare in the general population. We report here a large kindred who carry an inv(16)(p13q22) rearrangement. In general, individuals with the inv(l6) are in good health but prone to reproductive loss. Two different types of recombinant offspring were identified in this family and analyzed at the molecular level using probes from the or-globin and polycystic kidney disease loci. Both were associated with serious major malformations.