Case report of rec(7)dup(7q)inv(7)(p22q22) and a review of the recombinants resulting from parental pericentric inversions on any chromosomes.

Abstract

We report a rare case of duplication for 7q22 --> 7qter and deletion for 7p22 --> 7pter, resulting from a meiotic recombination of a paternal pericentric inversion, inv(7)(p22q22). The newborn boy had the 7q trisomy syndrome. In addition, the diagnosis of chondrodysplasia punctata was made from lumbar and hand X-ray films taken soon after birth. Only two cases of rec(7)dup(7q), both in a single family, have been reported previously. We review 133 offspring with recombinations resulting from pericentric inversions on any chromosomes reported between 1981 and 1995. Of the 133 cases, 110 had a long-arm duplication and short-arm deletion, while only 23 had a short-arm duplication and long-arm deletion. In 85 of the 133 cases, the mother was an inversion carrier (five carriers had two affected offspring), and in 46, the carrier was a father (one carrier had three affected offspring). Kaiser [Hum Genet 1984;68:1-47] reviewed 63 offspring with recombinations derived from a parental pericentric inversion reported between 1972 and 1981. In both surveys, recombinations resulting from pericentric inversions of chromosomes 1, 12, 19, and Y were not found.

• Authors: F Ishii, H Fujita, A Nagai, T Ogihara, H S Kim, R Okamoto, M Mino
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 73 Issue 3 Pg. 290-5 (Dec 19 1997) ISSN: 0148-7299 [Print] United States
• PMID: 9415687 (Publication Type: Case Reports, Journal Article, Review)

Topics

• Chromosome Aberrations (genetics)
• Chromosome Disorders
• Chromosome Inversion
• Chromosomes, Human, Pair 7 (genetics)
• Fatal Outcome
• Female
• Humans
• Infant, Newborn
• Karyotyping
• Male
• Pregnancy
• Syndrome
• Translocation, Genetic
• Trisomy