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Duplication of the distal part of the long arm of chromosome 1

โœ Scribed by Johnson, Virginia P.


Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
775 KB
Volume
39
Category
Article
ISSN
0148-7299

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Deletion of the distal long arm of chrom
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Based on analysis of 15 cases, there appears to be a characteristic facial appearance and pattern of associated malformations that would allow clinical delineation of deletion of the distal bands of lq. Characteristic manifestations include round face with prominent "cupid's bow" and downturned corn

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A tandem duplication of the distal long arm of chromosome 19 was identified in a 10 week fetus by analysis of chorionic villi. The fetal karyotype from two primary cultures was 46,XY,dir dup(19)(q13.2q13.4). The origin of the extra material was confirmed by fluorescence in situ hybridization using a