Premium
Report of a mother and daughter with the 12q14 microdeletion syndrome
Author(s) -
Bibb Audrey L.,
Rosenfeld Jill A.,
Weaver David D.
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34397
Subject(s) - daughter , short stature , microdeletion syndrome , microcephaly , biology , pediatrics , genetics , phenotype , gene , medicine , evolutionary biology
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. © 2011 Wiley Periodicals, Inc.