期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 158A, 期 2, 页码 417-422出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.34397
关键词
12q14 microdeletion; comparative genomic hybridization; microarray; short stature; microcephaly; birth defects; chromosomal abnormalities
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. (C) 2011 Wiley Periodicals, Inc.
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