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

✍ Scribed by Ishii, Fumiyo; Fujita, Hiroko; Nagai, Akira; Ogihara, Tohru; Kim, Han-Suk; Okamoto, Ryohzo; Mino, Makoto

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 48 KB
Volume: 73
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971219)73:3<290::aid-ajmg12>3.0.co;2-e

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✦ Synopsis

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 Xray films taken soon after birth. Only two cases of rec( )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 shortarm 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).

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