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Case of partial duplication 2q3 with characteristic phenotype: Rare occurrence of an unbalanced offspring resulting from a parental pericentric inversion

✍ Scribed by Angle, Brad; Hersh, Joseph H.; Yen, Frank; Christensen, Katherine M.

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 25 KB
Volume: 91
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000313)91:2<126::aid-ajmg9>3.0.co;2-h

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✦ Synopsis

We report on a male infant with partial trisomy 2q (q34→qter) resulting from a maternal pericentric inversion of chromosome 2 (p25.2q34). The infant had clinical findings similar to the characteristic phenotype associated with a partial duplication of chromosome 2q3. Carriers of pericentric inversions of chromosome 2 have an increased risk of pregnancy loss but have only rarely been reported to have a liveborn offspring with an unbalanced chromosome constitution. This case further confirms the risks associated with a pericentric inversion of chromosome 2 and is the second report with manifestations of the trisomy 2q3 phenotype. Am.

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