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Familial 10p trisomy resulting from a maternal pericentric inversion

โœ Scribed by Kozma, Chahira ;Meck, Jeanne M.

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
602 KB
Volume
49
Category
Article
ISSN
0148-7299

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Recombinant chromosome 18 resulting from
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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.

A recombinant X chromosome in a short st
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A 7 3/4-year-old girl with short stature was found to have a recombinant (X),dup q chromosome resulting from an apparently unique pericentric inversion (X)(p11.2q26) present in her mother and maternal grandmother. The recombinant X chromosome was shown to be late replicating and the inversion X chro