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Fertility and X-chromosome rearrangements: isodicentric X-chromosome formation in the mother and Xp deletion in her daughter

✍ Scribed by J. P. Fryns; A. Kleczkowska; P. Debucquoy; H. van den Berghe


Book ID
115089745
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
318 KB
Volume
34
Category
Article
ISSN
0009-9163

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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