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The phenotypic and cytogenetic spectrum of partial trisomy 9

✍ Scribed by Wilson, Golder N. ;Raj, Anita ;Baker, Diane ;Opitz, John M. ;Reynolds, James F.


Publisher
John Wiley and Sons
Year
1985
Tongue
English
Weight
345 KB
Volume
20
Category
Article
ISSN
0148-7299

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Partial trisomy 9β€”further delineation of
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A patient with partial trisomy 9 (47,XX,+9pter----q22.1) had bilateral cleft lip and cleft palate, enophthalmos, severe micrognathia, small, apparently low-set ears, and dislocatable knees. The phenotypic findings are compared with those of other documented cases of total trisomy 9.

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We report on a female infant with partial trisomy 9p (pter→p13) and partial trisomy 14q (pter→q22) resulting from a 3:1 segregation of a maternal reciprocal translocation (9;14)(p13;q22). Both trisomy 9p and partial trisomy 14q have been described as recognized phenotypes with characteristic pattern

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