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Abnormalities resulting from a familial pericentric inversion of chromosome 18

โœ Scribed by M. K. Kukolich; B. W. Althaus; J. W. Sears; C. B. Mankinen; R. C. Lewandowski


Book ID
119838670
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
412 KB
Volume
14
Category
Article
ISSN
0009-9163

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## Abstract We report on a newborn girl with duplication of 18q12.2โ†’18qter and deficiency of 18p11.2โ†’18pter which resulted from meiotic recombination of the maternal pericentric inversion, inv(18) (p11,2q12.2). Her clinical manifestations were compatible with those of partial trisomy 18q syndrome.

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