Abstract
Pericentric inversions have been reported for almost all human chromosomes. While some (e.g., inv 9) are benign, others represent a significant reproductive risk for recombinant offspring. Reported risks range from 1-10% depending upon the chromosome involved and the mode of ascertainment. Thirty-one probands representing 24 Hispanic kindreds have been documented to have rec(8)dup q secondary to a parental inv(8)(p23q22). The clinical phenotype associated with rec(8)dup q includes a characteristic facies, congenital heart disease, and developmental and postnatal growth retardation (Am. J. Med. Genet., 10:229, 1981). Detailed pedigree and cytogenetic data collected from the 24 kindreds (223 individuals from 67 sibships) was analyzed by segregation analysis. The risk for an inv(8) carrier parent was 7% for rec(8) offspring and 60% for inv(8) carrier offspring. The risk for SAB/stillbirth (11%) was not significantly increased above the general population. Only one of the two possible recombinants was identified in these kindreds. All kindreds have, to date, been of Hispanic background with origins in southern Colorado and northern New Mexico. The Hispanic background, geographic localization, and common ancestry in three kindreds suggest a single origin of the Hispanic inv(8).
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Smith, A., Spuhler, K., Sujansky, E. et al. 859 HISPANIC RECOMBINANT 8 (REC 8) SYNDROME: SEGREGATION ANALYSIS. Pediatr Res 19, 254 (1985). https://doi.org/10.1203/00006450-198504000-00889
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DOI: https://doi.org/10.1203/00006450-198504000-00889
