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Case Reports
. 2012 Feb;158A(2):417-22.
doi: 10.1002/ajmg.a.34397. Epub 2011 Dec 2.

Report of a mother and daughter with the 12q14 microdeletion syndrome

Audrey L Bibb  1 , Jill A Rosenfeld, David D Weaver
Affiliations
Case Reports

Report of a mother and daughter with the 12q14 microdeletion syndrome

Audrey L Bibb et al. Am J Med Genet A. 2012 Feb.

Abstract

The 12q14 microdeletion syndrome is characterized by microcephaly, short stature, osteopoikilosis, weight deficiency, and learning disabilities. We report on a mother and daughter with a 12q14 microdeletion. To our knowledge these are the first reported familial cases with the syndrome. We also discuss the genes in the deleted area that may be contributing to the phenotype.

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