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The origin of inverted tandem duplications, and phenotypic effects of tandem duplication of the X chromosome long arm

✍ Scribed by Van Dyke, Daniel L. ;Miller, Michael J. ;Weiss, Lester ;Opitz, John M.


Publisher
John Wiley and Sons
Year
1983
Tongue
English
Weight
624 KB
Volume
15
Category
Article
ISSN
0148-7299

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An 11-year-old girl with short stature, mental retardation, and mild dysmorphic features was found to have an inverted duplication of most of the short arm of the X chromosome [dic inv dup(X)(qter-->p22.3::p22.3-->cen:)]. Her mother, who is also short and retarded, carries the same duplication. Fluo