Pericentric inversion of chromosome 4 giving rise to dup(4p) and dup(4q) recombinants within a single kindred

B. Hirsch, S. Baldinger

Research output: Contribution to journalArticle

22 Scopus citations

Abstract

Theoretically, every pericentric inversion can give rise, during meiosis, to 2 alternate recombinant chromosomes. One of these will have a duplication of short arm material and deletion of long arm material (dup p), and the other, a duplication of a long arm material and deletion of short arm material (dup q). However, most published cases have been limited to a single recombinant type occurring within a given kindred. Here we document a large pericentric inversion of chromosome 4 which gave rise, within 2 generations of a kindred, to both dup p and dup q recombinants. The family was ascertained by the birth of a baby girl with multiple congenital anomalies suggestive of Wolf-Hirschhorn syndrome, and was found to have a dup 4q recombinant. Subsequent studies of her father and of her 27-year-old mentally retarded aunt showed a balanced inv(4) (p15.32q35) and a dup 4p recombinant, respectively. Given that: (a) the balanced inversion involves approximately 87% of the length of chromosome 4; (b) the predicted meiotic pairing would be homosynapsis with loop formation; (c) the size of the segments distal to the breakpoints of the inversion are of similar and relatively small size; and (d) both recombinants are compatible with life, then the risk for recurrence of a recombinant in this family is high. Genetic counseling addressed these issues, and to date, both chronic villus sampling (CVS) and amniocentesis have been provided for prenatal diagnosis.

Original languageEnglish (US)
Pages (from-to)5-8
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume45
Issue number1
DOIs
StatePublished - 1993

Keywords

  • chromosome 4
  • pericentric inversion
  • recombinant chromosomes

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