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Duplication of Xq26.2–q27.1, including SOX3, in a mother and daughter with short stature and dyslalia

✍ Scribed by Paweł Stankiewicz; Hannelore Thiele; Mike Schlicker; Andrea Cseke-Friedrich; Sylva Bartel-Friedrich; Svetlana A. Yatsenko; James R. Lupski; Ingo Hansmann

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
202 KB
Volume
138A
Category
Article
ISSN
1552-4825

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Short stature in females is often caused by hemizygosity for the terminal portion of Xp due to monosomy X or a deletion. We report on a mother and daughter with short stature as sole phenotypic abnormality and deletion of bands Xp22.32-p22.33 demonstrated by classic and molecular cytogenetic analysi